Beta Thalassemia

What is beta thalassemia?


The most familiar type of thalassemia is beta thalassemia. It involves decreased production of normal adult hemoglobin (Hb A), the predominant type of hemoglobin from soon after birth until death. (All hemoglobin consists of two parts: heme and globin). The globin part of Hb A has 4 protein sections called polypeptide chains. Two of these chains are identical and are designated the alpha chains. The other two chains are also identical to one another but differ from the alpha chains and are termed the beta chains. In persons with beta thalassemia, there is reduced or absent production of beta globin chains.

What is the difference between thalassemia minor and major?

There are two forms of beta thalassemia. They are thalassemia minor and thalassemia major (which is also called Cooley's anemia).

Thalassemia minor:


The individual with thalassemia minor has only one copy of the beta thalassemia gene (together with one perfectly normal beta-chain gene). The person is said to be heterozygous for beta thalassemia.


Persons with thalassemia minor have (at most) mild anemia (with slight lowering of the hemoglobin level in the blood). This situation can very closely resemble that with mild iron-deficiency anemia. However, persons with thalassemia minor have a normal blood iron level (unless they have are iron deficient for other reasons). No treatment is necessary for thalassemia minor. In particular, iron is neither necessary nor advised.


Thalassemia major (Cooley's anemia):


The child born with thalassemia major has two genes for beta thalassemia and no normal beta-chain gene. The child is homozygous for beta thalassemia. This causes a striking deficiency in beta chain production and in the production of Hb A. Thalassemia major is, therefore, a serious disease.



The clinical picture associated with thalassemia major was first described in 1925 by the American pediatrician Thomas Cooley. Hence, the name Cooley's anemia in his honor.
At birth the baby with thalassemia major seems entirely normal. This is because the predominant hemoglobin at birth is still fetal hemoglobin (Hb F). Hb F has two alpha chains (like Hb A) and two gamma chains (unlike Hb A). It has no beta chains so the baby is protected at birth from the effects of thalassemia major.


Anemia begins to develop within the first months after birth. It becomes progressively more and more severe. The infant fails to thrive (to grow normally) and often has problems feeding (due to easy fatigue from lack of oxygen, with the profound anemia), bouts of fever (due to infections to which the severe anemia predisposes the child) and diarrhea and other intestinal problems.


What is Mediterranean anemia?


The gene for beta thalassemia is not evenly distributed among peoples. It is, for example, relatively more frequent in people of Italian and Greek origin, both of which are peoples from the Mediterranean. Because of this, thalassemia major has been called Mediterranean anemia.
The name thalassemia was coined at the University of Rochester in upstate New York by the Nobel Prize-winning pathologist George Whipple and the professor of pediatrics William Bradford from the Greek thalassa for sea and -emia, meaning the blood. Thalassemia means "sea in the blood." But for the Greeks, the sea was the Mediterranean, so thalassemia also conveys the idea of the Mediterrranean in the blood.



The reason that the gene for beta thalassemia is relatively common, for example, among people of Italian and Greek origin is that parts of Italy and Greece were once full of malaria. The presence of thalassemia minor (like sickle cell trait in Africa) afforded protection against malaria, and therefore, this gene thrived.



What is the genetic pattern of inheritance of beta thalassemia?


The pattern of genetic transmission of beta thalassemia (and sickle cell disease) was deciphered by James V. Neel when he was at the University of Rochester (he later went to Michigan). Dr. Neel recognized that the parents of children with thalassemia major had thalassemia minor with one beta thalassemia gene. When these parents had children, they have a 25% chance of having a thalassemia major child (with both genes for beta thalassemia), a 50% chance of having children with thalassemia minor (with only one gene for beta thalassemia), and a 25% chance of having a child without thalassemia major or minor (with both genes for normal beta chains). This form of inheritance is medically referred to as an autosomal recessive pattern.

The diagnosis of thalassemia major and minor



Persons with thalassemias have smaller sized red blood cells than normals as well as low red blood cell counts (anemia). Thalassemia major and thalassemia minor can now be diagnosed (and distinguished from one another) not only by conventional clinical and blood testing, but also by molecular medical tests. These tests permit accurate diagnosis to be made at any time, even before birth (in fact, well before the beta chain machinery is fired up to make beta chains for hemoglobin).

The treatment of thalassemia major


Infants with thalassemia major are well at birth because of a special form of hemoglobin present in the fetus and newborn. Eventually, however, this hemoglobin is replaced by defective hemoglobin. Symptoms emerge late in the first year of life. The child develops pale skin, irritability, growth retardation, swelling of the abdomen due to enlargement of the liver and spleen (hepatosplenomegaly) with jaundice. This is associated with severe anemia with rupture of the red blood cells (hemolytic anemia). The child with thalassemia major becomes dependent on blood transfusions and, although they do help, they create further problems including iron overload. Folic acid supplementation is often given. At this time, there is only treatment for relieving the symptoms of the illness for thalassemia major. Gene therapy remains a potential treatment for the future.



The long-term hope is that thalassemia major will be cured by insertion of the normal beta-chain gene through gene therapy or by another modality of molecular medicine

Thalassemia Rehabilitation Fund in Sri Lanka

Thalassemia Rehabilitation Fund in Sri Lanka

Rehabilitation of Thalassaemia Patients and Thalassaemia Prevention Programme – 2008/2009
Thalassaemia is a disease, highly prevalent in northwestern province specially in Kurunegala district comparing to other districts in the country. There are nearly 1500 patients all over the country. Since the establishment of National Thalassaemia Center at Kurunegala (1994), according to our own register, 693 patients already registered and 565 patients are currently undergoing treatments. Annually about 60 – 70 new patients get registered in NTC.

Thalassaemia is a genetically inherited, non curable, but easily preventable disease. It is a heterogeneous group of genetic disorder. The production of normal hemoglobin is partially or completely suppressed in this disease. Treatment for thalassaemia is costly and needs life long therapy. As the disease is inherited, the best way of preventing thalassaemia is avoiding marriages between carriers.

As other chronic and incurable diseases it causes major public health problems and has important psychosocial impact between the patients and their family members. Proper understanding between the patients and their family members about the disease and its treatment has a critical effect on patient’s survival. If not, leads to increase the risk of disease complications and poor survival. Also proper rehabilitation of patients and family members markedly reduce the psychosocial impact on their families.

Prevention & rehabilitation are the primary importance in overall management of the disease. Treatment of the disease will only cause much burden to the curative sector. At present National Thalassaemia Center at Kurunegala needs more than 600 pints of blood and Rs.7.5 million worth of Desferrioxamine monthly. Iron chelation by Desferrioxamine is done with a machine, which costs Rs. 50,000. Therefore prevention of the occurrence of new cases is mandatory. It can be achieved by increasing the awareness to target population, including general public and carrying out a good, wide spread screening programme.

Our main aims are
1 Eradication of the deadly disease from Sri Lankan Society and next generation
2 Rehabilitation of suffering patient & their families

On the aspect in treating and rehabilitating thalassaemia patients, following are the ways of helping these innocent patients.

1 Thalassaemia Prevention Programme - Sponsorship or funding regarding preparing printing materials like posters, banners and handbills are very essential in delivering the message to the public in the prevention programmes.

2 Purchasing certain medicines – there is a current shortage of some medicines, which are essential for the management of thalassaemia patients.
Eg: - • Calcium tablets to prevent hypocalcaemia and carp pedal spasms.
Drug name: - Kalzana, Alfazip Approximate price Rs. 10/=each tablet.
• Hormone replacement tablets -
Drug name – Premarine, Novofem
• Drugs reducing oxidative stress
Drug name - Vitamin E

3 “Dividiriya” – The Scholarship Programme for thalassaemic children which provides Rs. 500/= per month per each Thalassaemia patients for their monthly expenses in treatments.

4 "Nana Piyasa" Children and Youth Library - A new library was established to uplift the psychological well being of the thalassaemic children. Books specially novels and furniture (steel book cupboards and book racks) are necessary to upgrade the library for a better service.

5 27 G butterfly needles - For the purpose of subcutaneous Desferrioxamine injections. 27 G needles will allow less painful and less complication experience in iron chelation.

6 Desferrioxamine infusion pumps –there is a shortage of 30 machines (Approximate price of each machine Rs. 50,000) for the  Thalassaemia major patients, which is essential for the iron chelation to prevent them from several deadly complications such as Diabetes mellitus, Heart failure, liver failure, etc.

7 Account currently maintaining in National Thalassaemia Center

Rehabilitation fund
Account Name : Thalassaemia PR fund
Account no : 007100004602
Bank : NDB Bank – Kurunegala branch

Prevention fund
Account Name : Thalassaemia Prevention fund
Account no : will be notified in few days time
Bank : NDB Bank – Kurunegala branch

Investigation fund
Account Name : Kurunegala Thalassaemia Association
Account no : 012-2-001-0-6905993
Bank : Peoples Bank – Hospital branch

Your kind helping hand in this regard is highly appreciated. It will be a great effort in lifting up the living conditions and improving the survival of Thalassaemia patients. Also this will be the first footstep in eradicating the deadly Thalassaemia disease from Sri Lanka.



Dr. Ashok Perera
Programme for Thalassaemia & Rehabilitation
National Thalassaemia Center
Teaching Hospital
Kurunegala
Sri Lanka

Dr. Mahinda Rankothge
Consultant Paediatrician
National Thalassaemia Center
Teaching Hospital
Kurunegala
Sri Lanka


Tel:94372222261/2

What causes thalassemia?

Thalassemia is caused by variant or missing genes that affect how the body makes hemoglobin. Hemoglobin is the protein in red blood cells that carries oxygen. People with thalassemia make less hemoglobin and fewer circulating red blood cells than normal. The result is mild or severe anemia.

Many possible combinations of variant genes cause the various types of thalassemia. Thalassemia is always inherited (passed from parents to children). People with moderate to severe forms of thalassemia received variant genes from both parents. A person who inherits a thalassemia gene or genes from one parent and normal genes from the other parent is a carrier (thalassemia trait). Carriers often have no signs of illness other than mild anemia, but they can pass the variant genes on to their children.

Hemoglobin includes two kinds of protein chains called alpha globin chains and beta globin chains. If the problem is with the alpha globin part of hemoglobin, the disorder is alpha thalassemia. If the problem is with the beta globin part, it is called beta thalassemia. There are both mild and severe forms of alpha and beta thalassemia. Severe beta thalassemia is often called Cooleys anemia

What is "Thalassemia?

Thalassemia (American English) (or Thalassaemia in British English) is an inherited disease of the red blood cells, classified as a hemoglobinopathy (a disorder of red blood cells). In other words, Thalassemia is a genetically acquired blood disorder. The genetic defect results in synthesis of an abnormal hemoglobin molecule. The blood cells are vulnerable to mechanical injury and die easily. To survive, many people with thalassaemia need blood transfusions at regular intervals.


Thalassemia, the disorder is named after the Greek word “thalassa” (sea) because it was originally observed in persons of mediterranean descent. It is also known as Cooley’s Anemia or Mediterranean Anemia.


Thalassemia developed as a natural mutation of the blood as a means of natural resistance to malaria. Although it was originally more common in the malaria zones of the planet, it is estimated that over 60 million people are carriers of Thalassemia, more than 2 million in the alone. It is found in very many countries, far away from malaria zones.


It comes in two forms: alpha and beta, alpha being more severe. In alpha thalassemia, inheritance of two copies of the gene results in death of the fetus. In beta thalassemia, inheritance of both copies of the gene results in thalassemia major which requires lifelong blood transfusions and iron chelation treatment. If left untreated, thalassemia major is fatal within the first few years of a child.


Inheritance of just one copy of the gene, dubbed thalassemia minor can widely vary from asymptomatic to a moderate anemia, and can significantly impact quality of life, especially in coexistance with other diseases. A milder form of the disease can occur with two inherited copies of the gene known as thalassemia intermedia, which requires less frequent treatments. Additional complications can occur if one inherits other hemoglobin disorder traits such as sickle cell or hemochromatosis.


Thalassemia is not very well known or very effectively screened and treated in most of the countries. As a result, many patients are misdiagnosed or improperly treated. Other than genetic testing, thalassemia is typically diagnosed with a hemoglobin electrophoresis test. Thalassemia major patients are severely anemic and require regular blood transfusions all throughout their lives, and daily iron chelation treatments to remove excess iron from the body from the blood transfusions. Thalassemia intermedia patients require similar but less frequent treatment. Major complications include spleen enlargement, gall bladder stones, bone deformation, developmental disorders and death. With proper treatment, it is now possible for a thalassemia major patient to live well past their forties.


Thalassemia minor can be asymptomatic or it can range from mild to moderate anemia which varies with age, and other health factors such as nutrition, diet and other disorders. It can also co-exist with B12 (folic acid) deficiency, and/or iron deficiency and may require periodic treatment. Thalassemia minor patients can have lower stamina, increased fatigue and lethargy because thalassemia results in smaller red blood cells that can carry less oxygen. Since thalassemia minor patients don’t receive blood transfusions, if they are moderately anemic they may need to alter their lifestyle.


Thalassemia major and intermedia patients also suffer fatigue, decreased stamina and lethargy, especially right before a transfusion. They require an iron-free diet for life and many lifestyle adjustments.