Thalassemia

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Thalassemia

	The word "Thalassemia" is a Greek term derived from thalassa, which means "the sea," referring to the Mediterranean, where it is very common (as also in the middle east & south-east asia as shown in red color in the map) and emia, "related to blood."
	What is Thalassemia major?
	The Thalassemias are a group of genetic (inherited from carrier parents) blood disorders that share in common feature, the
	defective production of hemoglobin, the protein that enables red blood cells to carry oxygen (and carbon dioxide).
	What are the types of Thalassemia major?
	Thalassemia 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 identical chains are alpha chains and the defect is called Alpha thalssemia . The other two chains are identical to one another (but differ from the alpha chains) termed as beta chains and defect in producing beta globin chains is called Beta thalassemia . Beta Thalassemia is the commoner type.
	What is the scale of problem?
	There are around 30 crore carriers in India and e very year 10,000 children with thalassemia major are born in India , which constitutes 10% of the total number in the world. It is common in Sindhis, Punjabis, Gujaratis, Lohana etc.
	What is Thalassemia minor/Thalassemia trait?
	A pair of genes, one inherited from each parent, control hemoglobin formation. Normal persons have inherited normal genes from both the parents and thus they form normal hemoglobin. Thalassemia carriers or traits have one normal and one abnormal gene. They are usually normal because the normal gene masks the function of abnormal gene.
	How does Thalassemia Major occur?
	If both the parents are Thalassemia minor, then there are 25% chances of having a thalassemia major baby, 50% chances of having Thalassemia trait child and 25% chances of having absolutely normal child.

What are the symptoms of Thalassemia major?

Normal Thal Minor Thal Major

Thalassemia Major is characterized by transfusion-dependent anemia, which usually begins in few months after birth, massive splenomegaly, bone deformities, growth retardation and peculiar facies in untreated individuals.

Are there any symptoms in people with Thalassemia trait?

In most people with Thalassemia traits, no unusual signs or symptoms are encountered. They are healthy individuals and would not even come to know of this unless a test is done to detect and they are informed about it

How are children with Thalassemia Major managed?

Thalassemics depend on regular blood transfusions for survival, usually every three or four weeks to maintain their hemoglobin level above 10 gm%. Repeated transfusions cause iron overload and deposition of iron in liver, pancreas, heart etc. Excess iron deposited in these tissues can be removed with the help of iron chelator, which is injected under the skin or given orally. Thalassemics are at increased risk of exposure to blood-borne infections such as hepatitis B, hepatitis C, HIV. Thalassemics should be vaccinated with Hepatitis B vaccine immediately on diagnosis to prevent it. Removal of spleen (Splenectomy) is sometimes resorted to reduce transfusion needs in older children.

Is there a cure?

Bone marrow transplantation (BMT) is the only possible cure. It means freedom from the repeated transfusions, iron chelation and all other complications. It requires a HLA matched sibling to donate the bone marrow. Finding an appropriate donor, high cost of the procedure and accessibility to the hospital doing the BMT procedure remain few of the bottlenecks.

Can Thalassemia be prevented?

Yes, it mainly requires a hightened awareness and sensitivity about this subject. All young people of marriagable age should get a screening test done to find out whether they have the trait or not. Having Thalassemia trait is innocuous as long as two people with Thalassemia trait do not get married (because of 25% probability of of giving birth to Thalassemia major child)
In a couple, both with Thalassemia minor, the birth of Thalassemia major child can still be prevented by ante-natal check-up and termination of pregnancy if the fetus is Thalassemia major.

Prathama has also taken up the task of spreading awareness about the Thalassemia Minor screening and detection. Prathama also facilitates Thalssemia minor check ups for young boys and girls.