Spherocytosis Gene Panel
Dipl.-Biol. Birgit Busse, Dipl.-Biol. Wolfgang Rupprecht
Hereditary spherocytosis (HS) is the main cause of congenital hemolytic anemia among Caucasians. The prevalence is approx. 1:2,000 to 1:5,000. It is a clinically, biochemically and genetically heterogeneous disease. The molecular cause is a defect of erythrocyte membrane proteins, which play a key role in the stabilization and organization of the plasma membrane. Main signs and symptoms are normocytic hemolytic anemia, icterus and splenomegaly. Gallstones are frequently seen. The signs and symptoms may vary strongly and can range from an asymptomatic form to a severe life-threatening anemia which requires treatment with transfusions and splenectomy.
All coding exons and their flanking intronic sequences from the genes in the spherocytosis gene panel are analyzed either by Sanger sequencing or by next generation sequencing (NGS).