Critical review on thalassaemia: Diagnosis and treatment

Abstract

Thalassaemias are inherited blood disorders that are characterized by imbalance in the synthesis of globin chains, leading to decrease in  oxygen carrying capacity of haemoglobin, and consequently causing anaemia with resultant impairment of organs’ function. Major types  are the alpha and beta thalassaemias. Asymptomatic individuals are estimated to be 1 in 100,000 people and about 10,000 children  globally, are born with the disease yearly. While a child with alpha thalassaemia major may die intra-uterine or shortly after birth, those  with beta-thalassaemia major present within the first two years of life, with severe anaemia. In the developing world, most of the affected  individuals are reportedly dead before they reach the age of 20, and while there is increasing knowledge of the disease in some  regions, there are some regions with very low awareness. Unfortunately, the prevalence of thalassaemia is still increasing in some  regions. This critical review therefore, x-rays thalassaemia on a general perspective, including its types, prevention, diagnosis, intricacies  and treatment.