MOLECULAR-BASIS OF HEREDITARY SPHEROCYTOSIS

Hereditary Spherocytosis (HS), or congenital hemolytic jaundice, is an important hemolytic anemia with an estimated prevalence of 1 in 5000 total live births. Approximately 75% of cases are autosomal dominant while the greater part of the remainder are inherited as recessive traits. In the last ten years, with advances in understanding of the biochemistry of the erythrocyte membrane skeleton (SDS-PAGE and IEF-SDS-PAGE after partial tryptic digestion), the molecular basis of some cases of HS have been determined. Have been found indeed deficiencies of some cytoskeleton protein as spectrin, ankyrin and band 3. The characterization of gene defects that disrupt red cell membrane protein structure and function is and will be a fascinating aim for the researchers engaged in this field.