Corpuscular Haemolytic Anaemias - Lepore Haemoglobinopathy

Haemoglobinopathies are hereditary conditions in which the fundamental lesion affects the synthesis rate or the structure of the globin in normal hemoglobin. The synthesis of the polypeptide chains in globin is genetically coded. Clinically, haemoglobinopathies manifest most commonly in the form of hemolytic anemia and, more rarely, cyanosis and polyglobulia. They differ from “acquired haemoglobinopathies”, such as methemoglobinemia, in which hemoglobin is usually compromised due to the action of toxic substances. The clinical aspects are in close relationship to the nature and level of the structural anomaly of the Hb molecule. The heterozygous form of the Lepore syndrome is hematologically characterized by a similar pattern to minor β-thalassemia and electrophoretically by abnormal Hb D fractions at a rate of 5-10% and a decreased percentage of HbA. In homozygous forms, Lepore Hb represents 10-20% on electrophoresis, the rest consisting of HbF; HbA and HbA2 are completely absent. From a clinical point of view, Hb Lepore heterozygotes are similar to those with minor β – thalassemia.