Be aware, share, care! World Thalassemia Day, May 8

Dr Mangala Borkar

Thalassemia is a hereditary disease that is transmitted from parents to offspring. Of course, all children will not get it, but one cannot tell if the first child will get it or not. Haemoglobin in our red blood cells carries oxygen to the body. It is made of two chains - alpha and beta. If alpha is defective at certain points one can get alpha Thalassemia, if beta is defective beta Thalassemia.

If the defect is more, the red cells break easily and earlier than normal, producing anaemia. In a child, it can retard growth, cause changes in bones, specially of the face, jaundice, and enlargement of the spleen.

Thalassemia in kids

Dr Prabha More-Khaire

Head of the Department, Paediatrics

GMC Aurangabad

Thalassemia is a genetic disease which results in a breakdown of the haemoglobin (Hb) in the red blood cells, which leads to premature destruction and anaemia in patients.

Therefore, such patients need frequent blood transfusions.

Thalassemia is of 2 types-

1) Thalassemia minor (asymptomatic) or mild.

2) Thalassemia major (symptomatic)

Thalassemia minor may remain undiagnosed due to lack of symptoms.

If one parent has this gene, 25% of the children will have Thalassemia minor.

Thalassemia major is found in 50% of children if both parents have Thalassemia minor.

Symptoms of anemia begin to appear in children at the age of about 9 months.

Such babies need frequent blood transfusions for proper growth.

They increase the levels of iron in the blood, affecting the heart and other glands, affect the growth of children, and lead to diseases such as thyroid and diabetes when they reach puberty.

Diagnosis:

If a child has anemia within 8/9 months of birth, HPLC test is required

This test should be done of the child and his parents so that the next pregnancy can be taken care of with proper guidance.

Prevention:

Although hereditary, the disease can be prevented.

For this, couples who want to get married should get tested for HPLC in their "medical horoscope" along with other tests (blood group, HIV).

Marriages within blood relations should be avoided if there is a case of Thalassemia in the family, if it is not possible to get blood tested.

Diagnosis of Thalassemia

Dr Anil Joshi, Professor and HOD Pathology, GMC Aurangabad

Thalassemia, especially minor, is seen quite commonly in our country.

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Thalassemia minor may be without symptoms and only diagnosed by testing blood.

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Peripheral smear may show changes in the shapes of red blood cells. One can suspect it in a case of anemia when we examine blood in automated blood analysers.

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Electrophoresis is useful for the diagnosis.

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Quantity of foetal hemoglobin and hemoglobin A2 will help to know the severity.

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HPLC is the best method (High performance liquid chromatography)

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Preventing/treating Thalassemia.

Dr Manoj Toshniwal, Haematologist.

If both the parents are Thalassemia minor, a child may develop Thalassemia major and have to be given blood transfusions lifelong, with other associated problems.

A premarital test of the would-be-spouses can pick up the Thalassemia minor easily and is worth doing, but there is little awareness about this. This electrophoresis test costs just about Rs 1000-1200.

If someone has Thalassemia major, bone marrow transplant is the only treatment. However, not getting an HLA matched donor, financial difficulties are hurdles for this. Now, this therapy is available even in Aurangabad and if the patient gets it at the right time, he can get rid of lifelong transfusions and their risks.