Human hemoglobinopathies in thalassemia syndromes genetics, molecular and laboratory aspects

ABSTRACT

Haemoglobin disorders are classified, in general, as intracorpuscular defects that may induce haemolytic anaemia. The genetically determined abnormalities of human haemoglobin can result from structural alteration in the haemoglobin molecule and this in turn can be the manifestation of sickle cell gene homozygosity and unstable haemoglobin or abnormally functioning haemoglobin. The variations will be outlined, and the state of knowledge regarding the haemoglobinopathies and thalassaemias in genetic terms and laboratory diagnosis is presented with particular emphasis on these disorders in Saudi Arabia