Thalassaemias Thalassawmia is an inherited form of anaemia with a wide spectrum of severity, varying from the perfectly healthy to severely anaemic and sometimes stillborn. Normal red blood cells contain haemoglobin which has 2 main types of molecular chain, alpha and beta. Production of these chains are controlled by genes. An inherited defect in one of these genes results in thalassaemia. In this group, there is defective synthesis of the alpha chain.
Disorder includes bone deformities, enlarged liver and spleen.
However, it is usual for affected persons to live a normal life span. Four defective genes Hydrops fetalis Incompatible with life, results in fetal death before birth. The above disorders are hereditary especially in the case of first 2 groups where symptoms are not apparent and patients are generally not aware of the disorder until or unless they go through blood examinations. There are 2 main types of disorders from defective synthesis of the beta chain. There is no abnormal physical findings apart from mild anaemia.