Iron supplements improve anemia, quality of life for women with heavy periods

A study by researchers from Finland found that diagnosis and treatment of anemia is important to improve quality of life among women with heavy periods. Findings published in Acta Obstetricia et Gynecologica Scandinavica, a journal of the Nordic Federation of Societies of Obstetrics and Gynecology, suggest clinicians screen for anemia and recommend iron supplementation to women with heavy menstrual bleeding (menorrhagia).

 One of the common causes of iron deficiency and anemia is heavy bleeding during menstration. Over time monthly mentrual iron loss without adequate dietary iron supplementation can reduce iron stores in the body. Previous studies have found that iron deficiency anemia may impact women's physical performance, cognitive function, mood, and overall quality of life.

Led by Dr. Pirkko Peuranpää from the Department of Obstetrics and Gynecology at Hyvinkää Hospital in Finland, this prospective study assessed the impact of anemia and iron deficiency on health-related quality of life in 236 women treated for heavy menstrual bleeding. The participants were randomized to either hysterectomy or treatment with a levonorgestrel-releasing intrauterine system such as Mirena®.

The team separated the participants into two groups. Women with hemoglobin -- the oxygen-carrying proteins in the red blood cells -- levels less than 120 g/L were defined as anemic and those with levels greater than 120 g/L were in the non-anemic group. Researchers also measured levels of ferritin in the blood to assess iron stores in both groups.

Results show that at the start of the study, 27% of women were anemic and 60% were severely iron deficient with ferritin levels less than 15 µg/L. In those women who were anemic only 8% took an iron supplement. One year following treatment hemoglobin levels had increased in both groups, but women who were initially anemic still had significantly lower levels compared to those in the non-anemic group.

One year after treatment women in the anemic group had a significant increase in energy, along with physical and social function, and a decrease in anxiety and depression compared to the non-anemic group. It took five years for the iron stores to reach normal levels. "The quality of life of women with heavy periods is plural, but the treatment of anemia is important to get good results," concludes Dr. Peuranpää. "Our findings suggest that clinicians should screen for anemia in women with heavy menstrual bleeding and recommend early iron supplementation as part of the treatment process."

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Acetate supplements speed up red blood cell production, anemia research shows

UT Southwestern Medical Center researchers seeking novel treatments for anemia found that giving acetate, the major component of household vinegar, to anemic mice stimulated the formation of new red blood cells.

 Currently, the hormone erythropoietin is administered to treat anemia, but this treatment carries with it side effects such as hypertension and thrombosis (blood clotting). The new research, which was performed in mice, suggests that acetate supplements could eventually be a suitable supplement or possibly even an alternative to administration of erythropoietin.

"Using rational interventions based on the mechanistic insights gleaned from our current studies, we may be able to treat acutely or chronically anemic patients with acetate supplements and thereby reduce the need for blood transfusions or erythropoietin therapy," said Dr. Joseph Garcia, Associate Professor of Internal Medicine at UT Southwestern, staff physician-scientist at the VA North Texas Health Care System, and senior author of the study, published in Nature Medicine.

Anemia is the most common blood disorder, affecting some 3.5 million people, including children and women of child-bearing age, as well as many elderly persons. It can have a significant impact on quality of life, leading to fatigue, weakness, and decreased immune function. People who are anemic produce insufficient red blood cells, which deliver oxygen to tissues throughout the body.

UT Southwestern researchers began their studies by identifying a critical pathway that controls the production of red blood cells in conditions of stress, such as low oxygen. Using genetically modified mice, researchers observed that low oxygen, a state known as hypoxia, stimulates the production of acetate.

Acetate, in turn, activates a molecular pathway that ultimately results in the production of red blood cells, or erythropoiesis, by triggering the production of the protein that stimulates this process, called erythropoietin.

"Our study shows that acetate functions as a biochemical 'flare,' linking changes in cell metabolism that occur during hypoxia with the activation of a selective stress signaling pathway," Dr. Garcia said.

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Gene mutation discovered in blood disorder aplastic anemia

An international team of scientists has identified a gene mutation that causes aplastic anemia, a serious blood disorder in which the bone marrow fails to produce normal amounts of blood cells. Studying a family in which three generations had blood disorders, the researchers discovered a defect in a gene that regulates telomeres, chromosomal structures with crucial roles in normal cell function.

 "Identifying this causal defect may help suggest future molecular-based treatments that bypass the gene defect and restore blood cell production," said study co-leader Hakon Hakonarson, M.D., Ph.D., director of the Center for Applied Genomics at The Children's Hospital of Philadelphia (CHOP).

Hakonarson and CHOP colleagues collaborated with Australian scientists on the study, published online Sept. 9 in the journal Blood.

"We're thrilled by this discovery which has advanced our understanding of certain gene mutations and the causal relationship to specific diseases," said study co-leader Tracy Bryan, Ph.D., Unit Head of the Cell Biology Unit at the Children's Medical Research Institute in Westmead, New South Wales, Australia.
The research team studied an Australian family with aplastic anemia and other blood disorders, including leukemia. Hakonarson and lead analyst Yiran Guo, Ph.D., along with genomics experts from BGI-Shenzhen, performed whole-exome sequencing on DNA from the families and identified an inherited mutation on the ACD gene, which codes for the telomere-binding protein TPP1.

Telomeres, complex structures made of DNA and protein, are located on the end of chromosomes, where they protect the chromosomes' stability. They are sometimes compared to plastic tips at the end of shoelaces that prevent the laces from fraying.

Telomeres shorten after each cell division, and gradually lose their protective function. Aging cells, with their shortened telomeres, become progressively more vulnerable to DNA damage and cell death. Separately from the aging process, certain inherited and acquired disorders may shorten telomeres and injure rapidly dividing blood-forming cells produced in bone marrow. This leads to bone marrow failure, one example of which is aplastic anemia.

Bryan's team investigated the function of the ACD gene. They determined that the mutation shortened telomeres and interrupted the ability of telomeres to attract the enzyme telomerase, which counteracts telomere shortening and thus protects cells.

In the current study, the researchers showed that the mutation in ACD alters the telomere-binding protein TPP1, disrupting the interactions between telomere and telomerase. Without access to telomerase to help maintain telomeres, blood cells lose their structural integrity and die, resulting in bone marrow failure and aplastic anemia.
Nine other genes were previously found to play a role in bone marrow failure disorders. The current study adds ACD to the list, the first time the gene has been shown to have a disease-causing role.
"This improved understanding of the underlying molecular mechanisms may suggest new approaches to treating disorders such as aplastic anemia," said Hakonarson. "For instance, investigators may identify other avenues for recruiting telomerase to telomeres to restore its protective function."

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Adults stop anti-rejection drugs after partial stem-cell transplant reverses sickle cell disease

NIH trial success suggests a new treatment option for older, sicker patients

Half of patients in a trial have safely stopped immunosuppressant medication following a modified blood stem-cell transplant for severe sickle cell disease, according to a study in the July 1 issue of the Journal of the American Medical Association. The trial was conducted at the National Institutes of Health’s Clinical Center in Bethesda, Maryland, by researchers from NIH’s National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK) and the National Heart, Lung, and Blood Institute.
The transplant done in the study reversed sickle cell disease in nearly all the patients. Despite having both donor stem-cells and their own cells in their blood, the patients stopped the immunosuppressant medication without experiencing rejection or graft-versus-host disease, in which donor cells attack the recipient. Both are common, serious side effects of transplants.
"Typically, stem-cell recipients must take immunosuppressants all their lives,” said Matthew Hsieh, M.D., lead author on the paper and staff clinician at NIH. “That the patients who discontinued this medication were able to do so safely points to the stability of the partial transplant regimen.”
In sickle cell disease (SCD) sickle-shaped cells block blood flow. It can cause severe pain, organ damage and stroke. The only cure is a blood stem-cell, or bone marrow, transplant. The partial transplant performed in the study is much less toxic than the standard “full” transplant, which uses high doses of chemotherapy to kill all of the patient’s marrow before replacing it with donor marrow. Several patients in the study had less than half of their marrow replaced.
Immunosuppressant medication reduces immune system strength and can cause serious side effects such as infection and joint swelling. In this study, 15 of 30 adults stopped taking the medication under careful supervision one year after transplant and still had not experienced rejection or graft-versus-host disease at a median follow up of 3.4 years.
“Side effects caused by immunosuppressants can endanger patients already weakened by years of organ damage from sickle cell disease,” said John F. Tisdale, M.D., the paper’s senior author and a senior investigator at NIH. “Not having to permanently rely on this medication, along with use of the relatively less-toxic partial stem-cell transplant, means that even older patients and those with severe sickle cell disease may be able to reverse their condition.”
“One of the most debilitating effects of sickle cell disease is the often relentless pain,” added Dr. Hsieh. “Following the transplant, we saw a significant decrease in hospitalizations and narcotics to control that pain.”
The partial transplant used donor stem-cells from healthy siblings. It effectively reversed SCD in 26 of 30 patients and allowed them to achieve stable mixed donor chimerism, a condition in which a person has two genetically distinct cell types in the blood. The study includes patients from an NIH study reported in 2009, in which partial stem-cell transplants reversed SCD in 9 of 10 people.
In the United States, more than 90,000 people have SCD, a genetic disorder found mainly in people of African ancestry. Worldwide, millions of people have the disease.
“The devastating complications associated with sickle cell disease can deeply affect quality of life, ability to work and long-term well-being,” said NIDDK Director Griffin P. Rodgers, M.D., a co-author on the paper. “This study represents an important advance in our efforts to make a potentially transformative treatment available to a wider range of people, especially those who could not tolerate a standard stem-cell transplant or long-term use of immunosuppressants.”
People with sickle cell disease interested in joining NIH blood stem-cell transplant studies may call 1-800-411-1222 or visit http://www.clinicaltrials.gov for more information.
The Sidney Kimmel Cancer Center at Johns Hopkins Medical Institute provided input into trial design.

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Part of the NIH, the National Heart, Lung, and Blood Institute (NHLBI) plans, conducts, and supports research related to the causes, prevention, diagnosis, and treatment of heart, blood vessel, lung, and blood diseases; and sleep disorders. The institute also administers national health education campaigns on women and heart disease, healthy weight for children, and other topics. NHLBI news releases and other materials are available online at: http://www.nhlbi.nih.gov.
The NIDDK, part of the NIH, conducts and supports basic and clinical research and research training on some of the most common, severe and disabling conditions affecting Americans. The institute's research interests include: diabetes and other endocrine and metabolic diseases; digestive diseases, nutrition, and obesity; and kidney, urologic and hematologic diseases. For more information, visit http://www.niddk.nih.gov.
The NIH Clinical Center (CC) provided clinical laboratory and transfusion medicine support and care for stem-cell donors and recipients. The CC is the clinical research hospital for the NIH. Through clinical research, physician-investigators translate laboratory discoveries into better treatments, therapies and interventions to improve the nation's health. For more information, visit http://clinicalcenter.nih.gov.
About the National Institutes of Health (NIH): NIH, the nation's medical research agency, includes 27 Institutes and Centers and is a component of the U.S. Department of Health and Human Services. NIH is the primary federal agency conducting and supporting basic, clinical, and translational medical research, and is investigating the causes, treatments, and cures for both common and rare diseases. For more information about NIH and its programs, visit www.nih.gov.

No More Transfusions,Your Child Can Live Without Beta Thalassemia Major

Following is some interesting information we have came across recently. It's solely your decision whether to get in touch with them or not.

Your child can live without beta thalassemia major with no more transfusions,thanks to Bone Marrow Transplant(BMT),  a 30 years reliable technique applied to more than 3,000 patients worldwide. 89% of low risk children are successfully cured.

Ask the free advice to Dr. Pietro Sodani,our co-founder and scientific coordinator, hematologist, BMT expert and inventor of BMT from haploidentical mother to child with thalassemia using protocol 30,who has done in the last 15 years more than 400 BMT in thalassemia with Prof. Lucarelli,the inventor of BMT from matching sibling and the worldwide authority.
 
With Bone Marrow Transplant (BMT) your child can become beta thalassemia major free (no more transfusions). Each child is different and has his own health conditions.
Dr. Pietro Sodani (co-founder and scientific coordinator. Hematologist, BMT expert and inventor of BMT from haploidentical mother to child with thalassemia using protocol 30,who has done in the last 15 years more than 400 BMT in thalassemia with Prof. Lucarelli,the inventor of BMT from matching sibling and the worldwide authority) gives you via email his free professional advice to tell how your child can have a BMT to be thalassemia free,and what the results might be.

 Go to www.curethalassemia.org  for more details

Q&A with Dr. Ellis Neufeld

We  periodically receives questions from patients on a wide range of topics related to thalassemia and its treatment.  We have shared a few of these questions with Dr. Ellis J. Neufeld, the Chair of CAF’s Medical Advisory Board and Associate Chief, Division of Hematology/Oncology at Boston Children’s Hospital. Dr. Neufeld has kindly answered these questions below.

Dr. Ellis J. Neufeld

1.  What is darker colored urine an indication of in thalassemia patients?
People have been fascinated by urine color for thousands of years.  There’s no single answer to this question, and as for many medical questions, it depends why one is asking. Here are some important things to know.
Generally for persons with thalassemia or without, concentrated urine is darker than diluted urine, and if something is coloring the urine more than normal, this effect will be magnified. Ordinarily the most concentrated urine is first morning void, after not drinking all night.
Many thalassemia patients are used to seeing different color urine from medications like iron chelators.  Deferiprone (Ferriprox) turns the urine orange.  Patients on deferoxamine (Desferal or generic) will have reddish urine when the drug (which is colorless by itself) combines with iron.
Darker yellow to light brown urine in thalassemia is from the bilirubin from broken down red blood cells.  This might be especially pronounced in thalassemia intermedia (non-transfusion-dependent thalassemia) or in transfused patients shortly before a next transfusion is due.
Urine that is truly the color of cola or very dark tea is not normal, and could signal increased breakdown of red blood cells (much more bilirubin than normal). Particularly in the few days after a transfusion, or if a person is feeling more tired than usual, this kind of dark urine should prompt a call to your healthcare provider right away.  A check of the urine and blood tests can be reassuring or point to a problem if one has arisen.
Red urine not related to foods (beets) or deferoxamine or laxatives  (ExLax, phenolphthalein) may reflect either bleeding  or hemolysis (breakdown of blood cells) and should always be investigated.
2.  If we know that orange juice can help in the absorption of iron, should we NOT be taking Exjade with orange juice?
Vitamin C intake and levels in thalassemia should be sufficient, but not excessive.  One glass of OJ a day, or ~100 mg of extra vitamin C a day, is just about right.  It’s fine not to take Exjade with orange juice too, but then there needs to be some other way of assuring vitamin C sufficiency, because chelators work better with adequate vitamin C present.

3.  Drinking tea is supposed to inhibit iron absorption; does that include caffeine-free teas?
Only tea with tannins (the brown bitter stuff in black tea) impairs iron absorption and one has to drink a heck of a lot of tea to have this effect.  Herbal teas, say, may have no tannins. But decaffeinated black tea has a normal amount, only the caffeine is removed.

4.  Have there been any studies that have shown that taking a B-complex vitamin daily can slow the breakdown of red blood cells?
Not to my knowledge.  I have not investigated in detail, but we get B vitamins from our food pretty well.  B vitamins like thiamine and B12 and folate are absolutely required to make blood, but that’s a different story.

5.  Can you address whether Exjade should be split into 2 equal doses taken every 12 hours (rather than one every 24), and how combining it with food can affect its effectiveness?
a. “Should be” is a discussion best had with your hematologist.   Exjade CAN BE split into two doses a day, and they don’t necessarily have to be equal, so that if you use three tablets daily, you might split 2 and 1.  There are several theoretical reasons why splitting twice daily might be advantageous.  First, there is less load of the drug all at once. This helps prevent stomach aches and loose stools in some patients on high doses. Second, although on the average, the drug can last up to around 24 hours in the blood, some patients have shorter drug “half-lives” in the blood, and splitting the dose means coverage through more of the day. Third, in a few published abstracts, and in the experience of many treaters, Exjade may be more effective split twice a day (or it may allow higher doses, which are more effective, if it allows less GI side effects).  So at our center we offer or urge twice a day in case of abdominal symptoms or not good-enough effect at higher dose.  Also, see the answer about combining with food (in part b of this answer). If it doesn’t need to be on an empty stomach, twice a day Exjade is much less of a burden.
b. In a study carried out at many expert centers around the world, sponsored by Novartis (the manufacturer), it was proven that Exjade is at least as effective taken with food as not.  As you know, the drug doesn’t dissolve well in water, that’s why it makes a chalky slurry. It dissolves better in fatty foods, and this may be why this is a good option. So we counsel patients  that they can crush the tablets and mix in most anything (but don’t cook or microwave it), and that’s fine. The DRUG LABEL still says to take on an empty stomach in liquid, but we believe this may be because the drug will soon go off-patent, and Novartis hasn’t gotten around to making this change on the label, perhaps for commercial reasons.

6.  Is clumping of platelets a side effect of thalassemia trait?
No.  Rare people have clumping of platelets that isn’t a disease but a lab artifact called “pseudothrombocytopenia” (pseudo as in not real), and your hematologist can sort that out by counting your platelets in a different anticoagulant (that is, a blue top tube instead of purple top).

7.  Are there tests other than creatinine levels to detect kidney damage early?
Yes. This is an important point.  The Exjade package label has specific information on testing for protein in the urine for example.  Exjade raises most everyone’s creatinine without causing significant kidney damage, and then does cause renal disease in a small subset of that group, not related to the creatinine alone.

8.  Is blood warming beneficial to decrease antibody reactions and/or antibody buildup?
In patients with temperature-specific antibodies to red cells, definitely.  In patients without such antibodies, no.  Your center’s blood bank would know this for you. There is no call for general blood warming for example.

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!

Findings could lead to treatments for blood disorders associated with iron deficiencies and overloads

A UCLA research team has discovered a new hormone called erythroferrone, which regulates the iron supply needed for red blood-cell production.

Iron is an essential functional component of hemoglobin, the molecule that transports oxygen throughout the body. Using a mouse model, researchers found that erythroferrone is made by red blood-cell progenitors in the bone marrow in order to match iron supply with the demands of red blood-cell production. Erythroferrone is greatly increased when red blood-cell production is stimulated, such as after bleeding or in response to anemia.
The erythroferrone hormone acts by regulating the main iron hormone, hepcidin, which controls the absorption of iron from food and the distribution of iron in the body. Increased erythroferrone suppresses hepcidin and allows more iron to be made available for red blood-cell production.
"If there is too little iron, it causes anemia. If there is too much iron, the iron overload accumulates in the liver and organs, where it is toxic and causes damage," said senior author Dr. Tomas Ganz, a professor of medicine and pathology at the David Geffen School of Medicine at UCLA. "Modulating the activity of erythroferrone could be a viable strategy for the treatment of iron disorders of both overabundance and scarcity."
The early findings were reported online June 1 in the journal Nature Genetics.
"Our previous work anticipated that a regulator of hepcidin could be secreted by the bone marrow," said the study's first author, Leon Kautz, a postdoctoral fellow at UCLA. "In this research, we searched for new substances that were made in bone marrow that could fill that role."
Researchers first focused on what happens in the bone marrow after hemorrhage. From there, they focused on a specific protein that was secreted into the blood. This protein attracted their attention because it belonged to a family of proteins involved in cell-to-cell communication.


Using recombinant DNA technology, they showed that the hormone suppressed the production of hepcidin and demonstrated the effect it had on iron metabolism.
The team foresees that the discovery could help people with a common congenital blood disorder called Cooley's anemia, also known as thalassemia, which causes excessive destruction of red blood cells and of their progenitors in the bone marrow. Many of these patients require regular blood transfusions throughout their lives. Most iron overload is attributed to the iron content of transfused blood. However, even patients who are rarely, or never, transfused can also develop iron overload.
"Overproduction of erythroferrone may be a major cause of iron overload in untransfused patients and may contribute to iron overload in transfused patients," said study author Elizabeta Nemeth, a professor of medicine at the David Geffen School of Medicine at UCLA and co-director of the UCLA Center for Iron Disorders. "The identification of erythroferrone can potentially allow researchers and drug developers to target the hormone for specific treatment to prevent iron overload in Cooley's anemia."
The discovery could also lead to treatments for other common anemia-related conditions associated with chronic kidney disease, rheumatologic disorders and other inflammatory diseases. In these conditions, iron is "locked up" by the effect of the hormone hepcidin, whose levels are increased by inflammation. Erythroferrone, or drugs acting like it, could suppress hepcidin and make more iron available for red blood-cell production.
The next stage of research is to understand the role of the new hormone in various blood diseases and study the molecular mechanisms through which erythroferrone regulates hepcidin.

Source:

University of California - Los Angeles Health Sciences