Thalassemia Diagnosis: Tests, Blood Work & What Results Mean

 If you're reading this, there's a good chance a blood test just came back with something unexpected — a low MCV, a note about your red blood cells, or a doctor who mentioned the word "thalassemia" and moved on before you could really ask what it meant. That gap, between hearing the word and understanding what's actually being tested, is where a lot of anxiety lives. This is meant to close that gap.

Thalassemia is rarely diagnosed with a single test. It's usually a sequence — one result prompting the next — and knowing the order helps the whole process feel less like a black box.

Why a Routine Blood Test Is Often Where This Starts

Most people first encounter thalassemia not because they went looking for it, but because it showed up as a side finding. A pre-marital screening, a prenatal visit, a routine physical, or an unrelated illness can all trigger a standard blood test that flags something worth a second look. A complete blood count is typically the first test ordered, since it measures hemoglobin levels and the number and appearance of red blood cells — and people with thalassemia generally have fewer healthy red cells and lower hemoglobin than expected.

The Complete Blood Count (CBC): The First Clue

The CBC is the test almost everyone has had at some point — it's part of routine checkups and pre-op screening. For thalassemia, the numbers that matter most aren't just your hemoglobin level, but the size and shape of your red blood cells.

What Is MCV (Mean Corpuscular Volume)?

MCV measures the average size of your red blood cells. In thalassemia, red blood cells are typically smaller than normal — a pattern doctors call "microcytic." Thalassemia is generally suspected when microcytic anemia shows up alongside a normal or elevated ferritin (iron storage) level, since that combination points away from simple iron deficiency.

Why a Low MCV Doesn't Automatically Mean Thalassemia

This is worth repeating clearly: a low MCV is a prompt for more testing, not a diagnosis on its own. Clinical guidance recommends following up a low MCV with a hemoglobin electrophoresis test, and doing the same for people from backgrounds where thalassemia is more common, including Mediterranean, Middle Eastern, African, West Indian, and Southeast Asian populations. If you're in Sri Lanka, where thalassemia carrier rates are relatively high, this is exactly the kind of result a doctor is likely to follow up on.

Hemoglobin Electrophoresis and HPLC: Confirming What Kind

If the CBC raises a flag, the next step usually looks directly at the hemoglobin itself, rather than just the cells carrying it.

What These Tests Actually Measure

Hemoglobin electrophoresis and high-performance liquid chromatography (HPLC) separate out the different types of hemoglobin in your blood, measuring the proportions of hemoglobin A, A2, F, and other variants. These are considered the most reliable methods available for confirming a hemoglobin disorder.

Making Sense of HbA, HbA2, and HbF

You don't need to memorize hemoglobin biochemistry to understand your results — you mainly need to know what a pattern shift signals:

• HbA is the main, "typical" adult hemoglobin.
• HbA2 and HbF are minor components in healthy adults, but their proportions often shift in thalassemia.

In beta-thalassemia specifically, the classic pattern is an increase in HbA2, sometimes along with an increase in HbF. A report showing elevated HbA2 alongside a low MCV is one of the more recognizable fingerprints of beta-thalassemia trait — but exact cutoff values vary somewhat by lab and population, so this is a conversation for your hematologist rather than a comparison against a generic number online.

The Mentzer Index: A Quick Screening Clue, Not a Diagnosis

You may come across the term "Mentzer index" if you've searched your own lab results. It's a simple ratio — MCV divided by red blood cell count — that labs sometimes use as a fast screening clue to help separate thalassemia trait from iron deficiency anemia, since the two can look similar on a basic CBC.

It's a useful screening tool, but it isn't a confirmed diagnosis on its own, and it's not something to calculate yourself as a substitute for your care team's interpretation of the full picture.

Genetic Testing: When It's Needed and What It Confirms

Electrophoresis and HPLC can strongly suggest thalassemia, but they don't always tell the whole story — especially for alpha-thalassemia, or when results sit in a borderline range. Genetic testing is often needed to confirm a diagnosis definitively. This matters most for:

• Family planning and carrier confirmation, especially before pregnancy
• Distinguishing between similar-looking hemoglobin variants
• Confirming a diagnosis in newborns or very young children, whose hemoglobin patterns are still shifting naturally in the first months of life

If you want the fuller picture on what genetic testing looks like before pregnancy specifically, [carrier screening before marriage or pregnancy] (link pending) walks through that process in more detail.

Telling Thalassemia Apart From Iron Deficiency Anemia

This distinction comes up constantly, because both conditions cause small, pale red blood cells, and both are common. The key differentiator is iron status: since thalassemia can look very similar to iron deficiency anemia on a basic CBC, doctors typically order a ferritin test to tell them apart. Low ferritin points toward iron deficiency; normal or high ferritin alongside microcytic anemia points more toward thalassemia.

This is exactly why iron supplements should never be started based on a low MCV alone — if the underlying cause is thalassemia rather than iron deficiency, iron supplementation isn't just unhelpful, it can contribute to iron overload over time. That decision should always sit with your doctor, based on your full test panel.

What Typically Happens After a Diagnosis

A confirmed thalassemia trait diagnosis, for most people, doesn't require ongoing treatment — it's information, not an illness in the day-to-day sense. A thalassemia major or intermedia diagnosis leads to a longer conversation with a hematologist about monitoring and, where relevant, treatment planning. Either way, the diagnostic pathway is designed to answer three questions in order: is this thalassemia, what type, and what does that mean for you and your family going forward.

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FAQ

How is thalassemia diagnosed? Usually starting with a complete blood count that shows small, pale red blood cells, followed by hemoglobin electrophoresis or HPLC to identify the specific hemoglobin pattern, with genetic testing used to confirm the diagnosis when needed.

What blood test shows thalassemia? A CBC can raise suspicion through a low MCV, but hemoglobin electrophoresis or HPLC is the test that identifies the hemoglobin pattern associated with thalassemia.

What is a normal MCV level? Reference ranges vary slightly by lab, so ask your provider to interpret your specific result rather than comparing it to a general online range. (Reviewer note: insert a lab-verified reference range here before publishing.)

Can thalassemia be mistaken for iron deficiency anemia? Yes — both cause microcytic anemia, which is why a ferritin (iron) test is usually run alongside the CBC to tell them apart.

Is genetic testing necessary to confirm thalassemia? It's not always required, but it becomes important for confirming carrier status before pregnancy, distinguishing between similar hemoglobin variants, or clarifying a borderline result.

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This article is for general information and is not a substitute for professional medical advice. If you or a family member have received an abnormal blood test result, please discuss the full results with your doctor or a hematologist, who can interpret your specific values in context.

Reviewer flag: ⚠️ Recommend hematologist review before publishing — specifically to verify reference ranges (MCV, HbA2 thresholds, Mentzer index cutoff) and confirm the iron-supplementation caution is phrased safely and accurately.

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Sources consulted

• NHLBI, NIH — "Thalassemia: Diagnosis" (nhlbi.nih.gov)
• American Academy of Family Physicians — "Alpha- and Beta-thalassemia: Rapid Evidence Review" (aafp.org)
• NCBI Bookshelf / StatPearls — "Laboratory Evaluation of Alpha Thalassemia" and "Laboratory Evaluation of Beta Thalassemia"
• NCBI Bookshelf / GeneReviews — "Beta-Thalassemia"
• UCSF Northern California Comprehensive Thalassemia Center — "Symptoms & Diagnosis"

 

What Is Thalassemia? Types, Causes & Complete Overview

If you've just been told you or your child has thalassemia — or that you're a carrier — you probably have more questions than answers right now. That's normal. Thalassemia is a lifelong condition, but it's also one of the most well-understood inherited blood disorders in medicine, and most people who have it go on to live full lives with the right care and support.

This guide is meant to be the starting point: a clear overview of what thalassemia is, why it happens, and what the different types mean. We'll link out to deeper posts on diagnosis, treatment, and daily life as they're published, so think of this as your home base.

What Is Thalassemia?

Thalassemia is an inherited blood disorder that affects how your body makes hemoglobin — the protein inside red blood cells that carries oxygen around your body. If you have thalassemia, your body doesn't produce enough normal hemoglobin, which means your red blood cells can't do their job as well, and you end up with fewer healthy red blood cells overall. This is a form of anemia, and depending on the type and severity, it can range from something you'd barely notice to a condition that needs lifelong medical care.

It's worth pausing on one distinction that trips a lot of people up: thalassemia is not the same as the anemia caused by low iron or poor diet. Iron-deficiency anemia happens because your body doesn't have enough iron to make hemoglobin. Thalassemia happens because of a genetic change that affects how hemoglobin is built, regardless of how much iron you have. This matters clinically too — taking iron supplements for thalassemia-related anemia, without a doctor's guidance, can actually cause harm rather than help, since iron overload is already a risk for many people with thalassemia. If you're not sure which one you're dealing with, that's a conversation for your doctor, not a guess based on symptoms alone.

What Causes Thalassemia?

The genetics — how it's passed down

Thalassemia is inherited, meaning it's passed from parent to child through genes. Hemoglobin is built from two types of protein chains, alpha and beta, and thalassemia happens when a genetic change disrupts the production of one of these chains.

Because it takes specific gene combinations to cause the more serious forms, thalassemia typically requires that both parents pass along an altered gene. If a child inherits just one altered gene, they usually become a carrier (sometimes called having "thalassemia trait" or "thalassemia minor") — generally with mild or no symptoms, but able to pass the gene to their own children. If a child inherits altered genes from both parents, the condition is usually more serious. <cite index="5-1">For beta thalassemia specifically, each child of two carrier parents has a 25% chance of inheriting two normal genes, a 50% chance of becoming a carrier, and a 25% chance of inheriting the more serious form</cite>. This is exactly why carrier screening before pregnancy matters so much — we'll cover that in a dedicated post.

Why some communities are affected more than others

<cite index="5-1">Thalassemia occurs most often among people of South Asian, Italian, Greek, Middle Eastern, and African descent</cite>, and it's also common throughout Southeast Asia. Researchers believe this pattern exists because carrying a single altered gene historically offered some protection against malaria — which is part of why these gene variants persisted in regions where malaria was widespread. <cite index="18-1">Globally, an estimated 270 million people carry a thalassemia or related hemoglobin gene variant, with somewhere around 80 to 90 million of those being beta thalassemia carriers specifically</cite>. If your family traces back to any of these regions, carrier screening is worth asking your doctor about — even if no one in your family has ever been diagnosed, since many carriers have no symptoms at all.

The Main Types of Thalassemia

Thalassemia isn't one single condition — it's a spectrum, and the terminology can be confusing at first.

Alpha thalassemia vs. beta thalassemia: <cite index="4-1">these are the two main types, and each depends on which part of the hemoglobin protein — alpha globin or beta globin — isn't being made correctly</cite>. Alpha thalassemia tends to be more common in people of Southeast Asian, South Asian, and African descent; beta thalassemia is more strongly associated with Mediterranean, Middle Eastern, and South Asian ancestry, though there's real overlap.

Trait / minor, intermedia, and major: within each type, severity is usually described in these terms:

• Trait (minor): you carry one altered gene. <cite index="5-1">This usually causes only mild anemia symptoms, if any</cite>.
• Intermedia: a moderate form, with anemia that's more noticeable but doesn't always require the same intensive treatment as major forms.
• Major: the most serious form, <cite index="5-1">also known as Cooley's anemia when referring to beta thalassemia major</cite>, which typically requires regular blood transfusions and lifelong monitoring.

On the alpha thalassemia side specifically, the most serious form — where very little or no alpha globin is produced — is called Hb Bart syndrome, which is diagnosed before or at birth and is extremely serious; the milder serious form is hemoglobin H disease, which usually causes moderate to serious symptoms but is compatible with life. We'll go deeper on each of these distinctions, including alpha vs. beta specifically, in an upcoming post.

Common Symptoms

Symptoms vary enormously depending on type and severity — that's part of what makes thalassemia hard to explain in one sentence. <cite index="3-1">Some people have no symptoms at all, while children with more serious forms often start showing signs by around age two</cite>. When symptoms do appear, they can include:

• Fatigue and weakness
• Pale or yellowish skin (jaundice)
• <cite index="3-1">A larger-than-normal spleen or liver, which can cause a swollen abdomen</cite>
• Slow growth in children
• Bone changes, particularly in the face, in more serious untreated cases

We're keeping this list general on purpose — symptoms in children and adults show up differently enough that it deserves its own post, which is coming soon.

How Thalassemia Is Diagnosed

Diagnosis usually starts with routine bloodwork — often a complete blood count (CBC) that turns up unusually small red blood cells (a clue doctors call microcytosis) — followed by more specific tests like hemoglobin electrophoresis, which identifies the different types of hemoglobin in your blood, and sometimes genetic testing to confirm which genes are involved. <cite index="3-1">More serious forms are frequently caught through routine newborn screening</cite>, which is part of why many parents first hear the word "thalassemia" in their baby's first days of life.

We'll walk through exactly what these tests measure and what your results might mean in a dedicated diagnosis post — this section is just the map, not the full territory.

How Thalassemia Is Managed

Management depends heavily on type and severity, and this is genuinely a conversation to have with a hematologist rather than something to self-manage from general information online. In broad strokes, care can include regular monitoring, blood transfusions for more serious forms, treatment to manage the iron overload that transfusions can cause over time, and in some cases, a bone marrow or stem cell transplant. Newer approaches, including gene therapy, are also changing what's possible for some patients.

We'll cover transfusions, iron overload management, and the latest treatment developments — including gene therapy — in their own posts, since each deserves real depth. If you take one thing from this section, let it be this: thalassemia management is highly individual, and your care team is the right source for decisions about your specific situation.

Living With Thalassemia

A diagnosis — for yourself or your child — can feel overwhelming at first. It's worth saying plainly: this is a condition people build full, meaningful lives around, not despite. Community matters here, and so does hearing from people who've actually lived it.

If you want to hear directly from someone managing thalassemia major day to day, Daniella Macolino's story is a good place to start, alongside Robert Mannino's patient profile — both offer a more personal window into what daily life can look like than a clinical overview ever could. We'll also be publishing a dedicated post on the emotional and mental health side of living with a chronic condition, because that part deserves just as much attention as the physical side.

Frequently Asked Questions

Is thalassemia the same as anemia? Not exactly. Thalassemia causes a type of anemia, but "anemia" is a broad term that covers many causes, including iron deficiency, which is a completely different issue with a different treatment approach.

Can thalassemia be cured? For most people, thalassemia is a lifelong condition managed through monitoring and treatment rather than cured. Bone marrow/stem cell transplant can be curative for some patients in specific circumstances, and gene therapy is an emerging option — both are worth discussing with a hematologist to understand if they're relevant to your situation.

Is thalassemia contagious? No. It's a genetic condition passed from parent to child — it can't be transmitted between people through contact, illness, or any other exposure.

Can two carriers have a healthy child? Yes — carrier status doesn't guarantee an affected child. As noted above, when both parents are carriers, there's still a meaningful chance of a child inheriting no altered genes or being a carrier without symptoms. Genetic counseling can walk through the actual odds for your specific situation.

Is thalassemia the same as sickle cell disease? No, though they're often mentioned together. Both are inherited hemoglobin disorders and both are more common in overlapping populations, but they involve different genetic changes and different disease patterns. We'll cover this comparison in more depth in an upcoming post.

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This article is for general educational purposes and isn't a substitute for medical advice. If you have questions about a diagnosis, symptoms, or treatment, please talk to your hematologist or care team.

Sources:

• National Heart, Lung, and Blood Institute (NHLBI), NIH — What Is Thalassemia, Causes, Symptoms
• StatPearls (NCBI Bookshelf) — Thalassemia
• Global Globin Network / PMC — carrier prevalence estimates

Three people with inherited diseases successfully treated with CRISPR

By Michael Le Page

Sickle cell disease can distort red blood cells

Stocktrek Images, Inc/Alamy

Two people with beta thalassaemia and one with sickle cell disease no longer require blood transfusions, which are normally used to treat severe forms of these inherited diseases, after their bone marrow stem cells were gene-edited with CRISPR.

Result of this ongoing trial, which is the first to use CRISPR to treat inherited genetic disorders, were announced today at a virtual meeting of the European Hematology Association.

“The preliminary results… demonstrate, in essence, a functional cure for patients with beta thalassaemia and sickle cell disease,” team member Haydar Frangoul at Sarah Cannon Research Institute in Nashville, Tennessee, said in a statement.

Beta thalassaemia and sickle cell disease are conditions caused by mutations that affect haemoglobin, the protein that carries oxygen in red blood cells. Those with severe forms require regular blood transfusions.

However, a few people with the disease-causing mutations never show any symptoms, because they keep producing fetal haemoglobin in adulthood. Normally, fetal haemoglobin stops being produced soon after birth.

This discovery has inspired the development of treatments based on boosting fetal haemoglobin. In this trial, run by collaborating companies CRISPR Therapeutics and Vertex, bone marrow stem cells are removed from people and the gene that turns off fetal haemoglobin production is disabled with CRISPR.

The remaining bone marrow cells are killed by chemotherapy, then replaced by edited cells. This is done to ensure that new blood cells are produced by the edited stem cells, but the chemotherapy can have serious side effects including infertility.

The first two patients with beta thalassaemia no longer need blood transfusions since being treated 15 and five months ago. Nor does the patient with sickle cell disease, nine months after treatment.

The results are excellent, says Marina Cavazzana at the Necker-Enfants Malades Hospital in Paris, France, whose team has treated a 13-year-old boy with sickle cell disease using a different approach.

Although the three patients did experience some adverse effects due to the chemotherapy, the CRISPR gene editing appears safe. However, the patients may need to be monitored for the rest of their lives to be sure it has no adverse effects, says Cavazzana.

Altogether five people have now been treated. The trial was put on hold because of the coronavirus pandemic, but has now resumed.

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TIF Launches “ThaliMe” App for Thalassemia Patients

The Thalassemia International Federation (TIF) is taking on a new project to develop and deploy an innovative mobile program to greatly aid and improve the lives of people living with thalassemia. The envisioned program, delivered via mobile app, has the potential to reach millions of people around the world living with this challenging disease. (A video demonstration is available by clicking here.)

The overall goals of this program are to give people living with thalassemia, their families and caregivers, a private mobile support network and a suite of tools to simplify daily management and inspire overall health. The ThaliMe app helps to connect the thalassemia community to one another and to those that care for them. The application will be designed with active input from the thalassemia community to ensure value, ease of use and applicability.

ThaliMe App will be easy to use, personalized and provide users with helpful tools to manage everything from medication reminders to appointment scheduling, from mood and mobility levels, to transfusion dates and accessing the latest research. TIF views this approach to patient care and the use of mobile technology for patient empowerment and outreach as a critical component of the overall thalassemia care ecosystem.

More specifically, the goals for the program are to develop a cross-platform mobile tool that enables:
• Private, peer to peer and peer to caregiver support networks to reduce isolation and improve patients sense of support;
• Easy to use, simple health tracking and information management functionality that eases the daily challenges of disease management;
• Data visualization tools that translate health tracking into visual format thus providing an easy and motivating way to chart personal health;
• Medication and appointment reminders to encourage adherence and timely care;
• Educational and research information channel that users can post to privately or share to their social networks, more broadly, like Facebook, Twitter etc. to improve awareness, empowerment and prevention.
The App can be downloaded from the Apple store or Google Play. For more information, contact TIF at thalassaemia@cytanet.com.cy.

Go Get ‘Em, Tiger! One Patient’s Approach to Thalassemia

Marsha DeSalvatore understands the saying about making lemonade when life hands you lemons; this talented and vivacious woman has learned to use the fact that she has thalassemia as a way to express herself through comedy and improvisation. In doing so, she helps herself and educates others about what it means to daily live with a chronic condition. Marsha recently shared her experiences.

You have been using humor as a way to explore thalassemia. Can you talk a little about what you have done, how it helps, etc.?
Marsha: Ever since I was a child, I was aware of how laughing made me feel while I was going through unpleasant situations at the hospital. I have been blessed with a very funny father who is always telling stories, doing impressions and being entertaining. When he came to the hospital to visit me, he would try to make me laugh and that’s when I realized that in those moments I was transported out of what was happening: sad clinic, smells of hospital stuff, needle in my arm, sounds of the transfusion monitor and blood going through my body. Laughing made me feel good even in this unpleasant situation.

Marsha leading a workshop on improvisation and thalassemia at 2014 Patient-Family Conference

Now I am blessed again to be in Rome and have a doctor who prides himself on being the Italian Patch Adams. He is always teasing the patients, telling jokes and making fun of the nurses which makes the clinic into an almost comedy club. Again those moments are when I am transported to happy place whilst being in a painful place.
While living in Rome, I discovered my actress side. I started taking acting classes which eventually led me to working as a comedian today. In the classes, I had to take improv (improvisation) classes. Improv is a form of acting which allows the person to think on their feet in the moment with no script. The goal (in brief words) is working on being in the moment, letting go of your inhibitions, getting out of a person’s comfort zone and having fun. The exercises range from simple warm up exercise to name games to later on evolving scenes with partners that become 2-3 minute mini-plays. As I started getting into this art form which helps me on stage as a comedian, I began to feel the same thing as I did when I was in the hospital: that I was transporting myself to a happy place in a rather uncomfortable situation and applying some of the improv rules to help with everyday life with a chronic illness.

How would you express your philosophy of dealing with the challenges that thalassemia can present?
Don’t fight it, embrace it and find an outlet that gives you happiness whether it’s through exercise or art.
For sure, you will have days when you need to cry, scream, or be alone, but embrace those moments. This is not something that goes away, so try to find ways to live with it.  Remember you are in charge of your illness; it makes up a small percentage of who you are. Find out what you like and who you are.  Use those tools to have an outlet.
For me, it’s laughing with friends, travelling, taking a walk in nature, doing yoga and acting which helps me feel better.  When I get down with my constant hospital life, I do something for myself.

Do you have any advice that you would pass on to others with thalassemia?
As my wise father has always told me, in his thick Italian accent, “Marrrsshha, you got two ways to deal with this thalassemia: you can be angry and hit your head against the wall, but then it is going to bleed – and you need the blood.  Or you can smile and go get ‘em, Tiger!”
Is there anything else you’d like to say?
I hope to be able to use my comedy and do improv with patients of any illness because the thought of giving them a moment of laughter in a moment of pain makes my life as a comedian so much more gratifying. Better than any audience I could ever have.

Thalassemia Patient Authors “Transfusion: A Patient Survival Guide”

Josephine Bila, an individual with thalassemia, has written a book, “Transfusion: A Patient Survival Guide.” 


Tell us a little about “Transfusion: A Patient Survival Guide.”  What motivated you to write it, what is it about, etc.?
Jo:  I was born with beta thalassemia major, so my life depends on receiving transfusions. I’ve been getting them every few weeks for over 35 years. When I was in my twenties, I used to receive blood in an adult outpatient hematology oncology unit. The floor plan was open, so patients would sit in large reclining chairs that were parallel and facing each other. There was a man with cancer who would sit across from me and stare at me for almost the entire duration of my treatment. I would pretend to sleep, but every now and then I would open my eyes and see him gazing at me. In my ever so slight glances, I noticed how this man expressed an intense displeasure and discomfort with his transfusion treatment. He would groan and moan and hold his arm as stiff as a plank of wood. That’s when I realized that he was looking at me curiously not only because I was young, but also because I had emotionally and physically conquered my fear and discomfort with transfusions. I would laugh with the nurses and feel completely tolerant of my pain. That’s when I began to think about how much coping strategy I had taught myself over my lifetime. It’s when I recognized that the tools and practices I had accumulated over the years could be shared and potentially save people from suffering the way I once did.

What are the “take home messages” that you hope readers will pick up from the book?
The primary message of “Transfusion: A Patient Survival Guide”  is that you have a lot more control over your experience in the hospital than you might think. The book shares personal stories from my life that describe how I managed to transform my negative thought patterns and extremely painful physical experiences (I used to get transfusion reactions) into positive thoughts and virtually pain-free physical outcomes.

What was the process of creating the book like?
The process was pretty strange, to be honest. I wrote the entire book two years ago by waking up at two o’clock in the morning and writing for an hour or so over the course of two months. I had a compulsion to put my thoughts onto paper – as if the words had been formulating since the day I noticed that old man suffering. Everything came together with very little effort on my part. The book’s interior design, however, was much more difficult to create. A good friend of mine laid out each page individually and beautifully, in full color, so I feel like he deserves a lot of the credit too.

Do you see this book as an extension of your advocacy efforts on behalf of the thalassemia community and/or the overall patient community?
Yes. I absolutely know for a fact that this book will help any patient or parent of a patient, simply because we need to know how people like ourselves cope and achieve peace in life. I didn’t know any thalassemia patients as I was growing up. Now I go to a hospital where I’m one of many, so I feel so at ease knowing that I’m not alone in my experiences. I want other people to feel this sense of peace. I want parents to know how to console their child when he or she is in need of transfusions. Most of all, I want any person who reads the book to come away feeling stronger, more powerful, and much happier.

What else would you like to share about the book?
You can only buy the book on Amazon (at the moment): amzn.to/1mm2sJW .
I also created a guided meditation to accompany the book, which can be acquired on this page: transfusionsurvivalguide.com.

Is there anything else you’d like to share or to say to those with thalassemia?
Yes, I would love to say that living with thalassemia is not easy. I wasn’t always a beacon of light for people. I spent most of my life angry, sad, and ashamed of having a blood disorder. Then I realized that I was the one designing my life. I decided early on that I could either choose to live a life of misery or I could choose to live a life of happiness. I took the high road. We all have this choice and sometimes it takes an enormous amount of inner strength to push through our own negative momentum, but I know it’s possible. I’m living proof of this fact. I’d love to see you try one small step towards happiness each day. We are so much stronger than we sometimes allow ourselves to be in all areas of life. Let’s show the world what we’re made of!

Researchers discover genetic explanation for non-diabetic kidney disease in African-Americans

Variants in the APOL1 gene help explain high rates of renal disease in individuals of recent African ancestry; authors speculate that these variants originally evolved as a survival mechanism against parasitic disease in Africa
Kidney disease is a growing public health problem, with approximately half a million individuals in the United States requiring dialysis treatments to replace the function of their failed kidneys. The problem is particularly acute among African-Americans, whose rates of kidney disease are four times higher than those of European Americans.

As reported online this month by the journal Science, collaborating research groups found that patients with focal segmental glomerulosclerosis (FSGS) and hypertension-attributed end-stage kidney disease (H-ESKD) harbored variants in the APOL1 gene that changed the ApoL1 protein sequence. These variants are commonly found in individuals of recent African ancestry.

Furthermore, in a twist of evolutionary medicine, the disease-causing variants may have protected Africans against a lethal parasite, explaining why these genetic variants are so common in the population today.
Researchers at Wake Forest University Baptist Medical Center contributed to and participated in this scientific team, led by investigators at Beth Israel Deaconess Medical Center (BIDMC) and the Universite Libre de Bruxelles. Together, they discovered a genetic explanation - with evolutionary roots - for the higher incidence of non-diabetic kidney disease in African-Americans.

"We found that the APOL1 risk genes for renal disease occur in more than 30 percent of African-American chromosomes," explained co-senior author Martin Pollak, M.D., chief of nephrology at BIDMC and associate professor of medicine at Harvard Medical School. "In fact, the increased risk of kidney disease in individuals who inherited two copies of these variant forms of APOL1 is reported to be approximately 10-fold."
FSGS is a form of injury to the kidney's filtering system, which causes proteins to be lost into the urine and gradually reduces kidney function. ESKD, or end-stage kidney disease, is defined by kidney failure that has progressed to the point that the patient requires dialysis or kidney transplantation.

It has long been thought that high blood pressure is a common cause of end stage kidney disease in African-Americans," said study co-researcher Barry Freedman, M.D., John H. Felts III Professor and chief of the section on nephrology at WFUBMC. "However, the strong association between variants in the APOL1 gene and hypertension-attributed kidney disease suggested that this kidney disease truly resides in the spectrum of FSGS and is not due to hypertension as was initially believed."
More than 2,000 study participants from the southeastern United States were recruited to the study by WFUBMC.

Last year, Freedman led a team of WFUBMC researchers who found that genetic variation near the MYH9 gene on chromosome 22 was also associated with increased risk of hypertension-attributed kidney disease in African-Americans. However, because genome analyses had shown a strong signal of natural selection in the region containing both the MYH9 and APOL1 genes, the authors reasoned that the location of the disease-causing genetic variants was in a broader region. They also predicted that the frequency of these variants would be markedly different between European-Americans and Africans.

Using data from the 1000 Genomes Project DNA data bank, the authors identified candidate genetic variants and tested for their presence in DNA sample sets. They found that two APOL1 variants - dubbed G1 and G2 - were associated with an increased risk of both FSGS and hypertension-attributed ESKD in African-Americans.
"G1 and G2 both changed the coding sequence of APOL1," Pollak explained. "Further analyses revealed that these very same genetic variants [G1 and G2] conferred human immunity against the parasite responsible for sleeping sickness."

African sleeping sickness is caused by an African trypanosome parasite, which is transmitted by the tsetse fly. The disease, which produces severe nervous system disorders that can ultimately lead to brain damage, coma and death, is estimated to affect tens of thousands of people, but is not found outside of Africa.
The APOL1 protein circulates in the blood and helps defend against trypanosomes, a finding initially discovered by co-senior author Etienne Pays, Ph.D., of the Universite Libre de Bruxelles, in Belgium. In the current study, Pays' laboratory found that the plasma from patients harboring the G1 and G2 variants inactivated the trypanosomes that cause the deadliest forms of African Sleeping Sickness, as did the APOL1 protein with these same variants inserted.

"We were excited that our findings appeared to relate kidney disease in the United States with human evolution and parasite infection in Africa," Pollak said. "While there are many details that remain to be clarified in future studies, we do know that sickle-cell disease is a well-established precedent for this model, in which one copy of the mutation confers protection against a parasitic infection but two copies of the mutation can cause severe disease." Pollak explained that, when present in a single copy, certain hemoglobin mutations protect against malaria. But two copies cause sickle cell disease or thalassemia, severe red-blood cell diseases.
"It appears that we may have found a similar situation in APOL1," Pollack added. "Consequently, while these genetic variants protect against sleeping sickness, they also greatly increase a person's susceptibility to kidney disease. We hope that these new findings will not only lead us to a better understanding of the underlying mechanisms leading to kidney failure, but will also help us develop new ways to treat trypanosome infection and kidney disease."

Indians at Risk for Rare Blood Disorder Thalassemia

By LISA TSERING
indiawest.com


Indian Americans are at greater risk of contracting thalassemia than many other ethnic groups, according to a study by the Children’s Hospital and Research Center Oakland in Oakland, Calif. To coincide with International Thalassemia Day May 8, the hospital is urging the community to get tested — and to seriously consider banking their infants’ cord blood.

The rare and hereditary blood disorder can result in severe anemia. Children with thalassemia often require frequent blood transfusions and lifelong medical treatment.

Gargi Pahuja, a health care law attorney in New York, was diagnosed with thalassemia when she was 12 months old. “My parents were from India and they hadn’t heard of it,” Pahuja told India-West in a phone interview. “They were shocked to find that they carried the trait.”

Since thalassemia is so rare, some doctors are likely to confuse its symptoms, which include yellow skin, with jaundice. But thalassemia is a much more serious disease.

Thalassemia (also known as Mediterranean anemia) is an inherited blood disorder characterized by less hemoglobin and fewer red blood cells in the body than normal. Since hemoglobin allows red blood cells to carry oxygen, a deficiency leads to anemia, marked by fatigue, pale appearance, shortness of breath and weakness.

Pahuja is 35 years old, and continues to get blood transfusions every two weeks.

“The fact that I’m 35 is an important milestone,” she told India-West. “My parents were told that I would die by the age of 15 … my generation is the first to live into their 30s, 40s and 50s.”

The cause of thalassemia is defects in the genes that make hemoglobin. The only way to contract thalassemia is to inherit one or more defective hemoglobin genes from your parents.

Infants in California are required to receive a test for thalassemia, but California is the only state to require the test, said Pahuja.

Bone marrow transplant is the established treatment to cure thalassemia. Umbilical cord blood stem cells donated by a sibling have been proven to cure 91 percent of cases, according to a 2007 Children’s Hospital study of 40 children.

A Mayo Clinic statement said that most children with moderate to severe thalassemia show signs within the first two years of life. Prenatal testing is also available, at 11 weeks (chorionic villus sampling), 16 weeks (amniocentesis), and 18 weeks (fetal blood sampling).

“People need to be tested so that they can make informed decisions regarding family planning,” said Pahuja.

The Children’s Hospital study showed that in the United States, around two million people are carriers and that around 1,000 people have the full-blown disease. The hospital has one of the largest thalassemia centers on the West Coast, and currently treats around 300 patients.

In the U.S., there are more than 5,000 thalassemia cases, and those numbers are expected

to rise as the trait carrier population increases, said the study; in Alameda County alone, the Asian Indian population is more than 47,000 and has increased by 209 percent in the last decade, according to statistics provided by the Asian American Pacific Islander Health Forum.

According to Pahuja — who says she has devoted her professional and personal life to increasing awareness of thalassemia — people from North India are especially at risk. “If you are Punjabi, or Gujarati, or Sindhi, you need to get tested,” she told India-West. Individuals who are past child-bearing age need not get tested, she added.

In India, as many as one in eight people are believed to be carriers of the thalassemia gene, and in India, it is expected that 1 million people will have the disease in the next 40 years. Babies born there are 80-90 percent likely to die of the disease, said the Children’s Hospital spokesperson. But increasing awareness of the disease there has opened up a market for blood cord banking; a recent Mumbai Mirror article states that there are now three private stem cell banks — one run by Reliance in Mumbai; the CryoCell stem bank in New Delhi; and Life Cell, run in collaboration with Cryo-Cell International, U.S.A., in Chennai.

In India, it costs around Rs. 70,000 ($1,575) to preserve a newborn’s cord blood for 20 years. Here in the United States, the average cost is around $2,000.

Dispelling the stigma attached to blood disorder

Prakash Jaga, 23, from Sherwood was diagnosed with thalassaemia when he was a baby.
Thalassaemia is a genetic disorder of the blood that causes a form of anaemia, decreasing the number of red blood cells. The condition is hereditary and mainly affects those of Mediterranean descent and is also common in the Arabian Peninsula, Iran, Pakistan and southern China.
In South Africa, it is found mainly in those of Indian descent as well as in the Greek, Italian and Portuguese communities.
There are approximately 250 to 300 Indians in the country who have the blood condition.
There are two types of thalassaemia - minor, a less severe form where patients present a mild form of anaemia and major, a chronic condition requiring lifelong medical intervention.
The disorder is inherited from both parents who are carriers of thalassaemia minor. Parents who are carriers have a one-in-four chance of passing on the condition to their children.
Treatment of the condition requires a lifelong cycle of blood transfusion every three to four weeks for the rest of the patient's life.
Dr Yasmin Goga, a paediatric haematology consultant, said the condition presented itself between the ages of six months to a year. She said without treatment it would eventually lead to car-diac failure and death within the first two years of an affected child's life.
Last week Saturday marked World Thalassaemia Day. As a result, Jaga and the South African Thalassaemia Association are aiming to raise more awareness about the condition.
Jaga said when he told people about it, they assumed that, because it was a blood disorder, it was related to Aids.
"A lot of people are ignorant. They hear about it and then take a step back from me because they think it's contagious. I have had women who have been out with me and when I tell them, they take a step back. They think it's something similar to Aids."
But Jaga said having the condition has not prevented him from living a normal, full life.
"You get used to living with it. Initially it is a shock for parents and it's hard for the child to get used to it because you are getting injected every three weeks with a drip.
"But you slowly adjust to it and you come to realise that, if you don't do it, you will die. Without the blood transfusion you become weak and oxygen stops running in your body and your organs will give up."
He said with the help of the association they were trying to educate people about the disorder.
Jaga, who works in administration for a travel company, said every three weeks he took a day off work to get his treatment done, saying some days were "good" while others were "tiring".
He said people needed to have a positive outlook on life. "There is a lot that you can do. If you are on the treatment, you can live a long and happy life. If people ask you about it, educate them."
With transfusions every week, thalassaemia patients suffer with iron overload which gets deposited in their liver and can eventually lead to cardiac failure. In an attempt to prevent this, the patient is injected five times a week.
However, because of the invasive manner of the injections a new drug was developed, which is taken orally. The South African Thalassaemia Association campaigned for the drug to be made available to South Africans in 2006.
Sunil Soni, chairperson of the association, said the core function of the group was to provide patients and extended families with support regarding the treatment of the disorder. He said the condition could cost approximately R300000 a year.
"The condition is very complicated, so we have the association to improve the quality of life for all living with it. There is not enough awareness about this condition."
Soni said the condition was sometimes misdiagnosed and presented as anaemia.
"There are many people who are carrying the gene but they don't know it. So our duty is to empower people so that they can make educated decisions about the future of their family."