Each year approximately 5000 thalassaemia infected babies are born

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Each year approximately 5000 thalassaemia infected babies are born

Dr.  Saeed Ahmed, Husaini Blood Bank

Thalassaemia is an inherited genetic blood disorder in which patient’s hemoglobin is abnormally formed. Normally the baby inherits one alpha & one beta gene from the mother and one alpha & beta gene from the father. These two alpha and two beta genes produce two alpha and two beta chains which combine with four molecules of iron to form hemoglobin in the red cells. The function of hemoglobin is to carry oxygen from the lungs to the tissues and carries back carbon dioxide to the lungs. The normal life span of red cells is 120 days.

There are two types of Thalassaemia “Alpha thalassaemia” and” Beta thalassaemia”. Beta thalassaemia is further classified into “beta thalassaemia minor or carrier” and “beta thalassaemia major”. Whereas Alpha thalassaemia is not common in Pakistan.

Beta thalassaemia major: If both the male and female partners are thalassaemia minor then there are 25% chance baby born with thalassaemia major, 50% chance of thalassaemia minor and 25% chance of normal baby. Thalassaemia major is the most dangerous type; they lack both beta genes and thus no formation of beta chains, the alpha chains replaces the two beta chains which precipitate and thus premature breakdown of red cells occurs. These patients require regular fortnight blood transfusion from healthy voluntary blood donors till death. During their life they develop many complications related to blood transfusion like hepatitis B & C, AIDS, etc and the complication of the disease itself like growth retardation, hormonal deficiencies, deposition of iron in the pancreas (diabetes mellitus) and in the heart (heart failure), etc. The estimated supportive treatment for one patient costs Rs 270,000 per year and the curative treatment is bone marrow transplantation, the estimated cost is over 2.5 million rupees. Approximately over one million blood units per year are required for these thalassaemic patients in Pakistan.

Thalassaemia minors / carriers are only carrier of the one defective gene, their hemoglobin level remains just below normal i.e. between 9-11 gm/dl (normal level is 12-16gm/dl). These individuals pass their normal life and do not require any treatment or blood transfusion throughout their life.

Thalassaemia in Pakistan:  As per statistic reports, 5-7% approx. 9-10 million Pakistanis are carrier of Thalassaemia OR are thalassaemia minor.  Each year approximately 5000 thalassaemia major babies are born.

Prevention is better than cure; it is advised that Thalassaemia Minor couple should not marry.

2011-06-03T07:15:10+00:00