β - Thalassaemia - A Fatal Blood Disorder

Abstract

β-thalassaemias are a group of hereditary blood disorders characterized by anomalies in the synthesis of the β chains of hemoglobin resulting in variable phenotypes ranging from severe anemia to clinically asymptomatic indi- viduals. In India, ß-thalassaemia is the most common monogenic disorder. The average incidence of ß- thalassaemia trait in India is 3.3% with 1–2 per 1,000 couples being at risk of having an affected offspring each year. People affected by thalassaemia minor look perfectly healthy. But the children of two thalassaemia minors can inherit thalassaemia major, a deadly disease. Treatment may extend the life of the thalassaemic individual into early adulthood, but it is very cumbersome and costly, mainly consisting of blood transfusions and expensive iron chelation regime, is yet not satisfactory. Despite increased life expectancy, complications keep arising. These relate to inadequate transfusions, transfusion-related infections, allosensitization, iron-overload related cardiac, endocrine and liver disturbances and toxicities of iron chelators. Thus the disease causes significant morbidity and mortality in affected individuals, making prenatal diagnosis an important option for couples at risk of having β- thalassaemia major offspring. Prevention of the disease by genetic counseling and prenatal diagnosis has a partic- ularly important role in this part of the world where there are limited resources for the medical care. The only cure available today is bone marrow transplantation, which is risky and too costly for most of the patients. Thus, the birth of a thalassaemic child places considerable strain, not only on the affected child and its family, but also on the community and the nation at large. With these limitations, emphasis must shift from treatment to preven- tion of such births in the near future.