Hereditary Spherocytosis: Influence Statistics

Expert Impact

Concepts for which they have has direct influence: Hereditary spherocytosis , Hereditary splenectomy , Patient age , Spherocytosis hereditary , Accessory spleens , Traumatic rupture , Hemolytic anemia .

Key People For Hereditary Spherocytosis

Top KOLs in the world
#1
Narla Mohandas
erythrocyte membrane hereditary spherocytosis plasmodium falciparum
#2
Achille Iolascon
hereditary spherocytosis congenital dyserythropoietic southern italy
#3
Silverio Perrotta
hereditary spherocytosis neurofibromatosis type honoraria funding
#4
Patrick G Gallagher
hereditary spherocytosis erythrocyte membrane gene expression
#5
Stefan W Stefan
hereditary spherocytosis iron overload pyruvate kinase deficiency
#6
May‐Jean King
hereditary spherocytosis point mutation result presentation

Hereditary Spherocytosis

Abstract

. Hereditary spherocytosis is a clinically heterogeneous, genetically determined red blood cell membrane disorder resulting in hemolytic anemia. A deficiency of spectrin, the largest and most abundant structural protein of the erythrocyte membrane skeleton, results in the formation of spherocytes which lack the strength, durability, and flexibility to withstand the stresses of the circulation. Clinical manifestations of the disease are primarily dependent on the severity of hemolysis, which additionally results in an increased incidence of pigment gallstones. The likelihood of cholelithiasis is directly related to patient age and is uncommon before 10 years of age. Splenectomy is indicated in virtually every patient. When the disease is diagnosed in early childhood, the risk of overwhelming postsplenectomy sepsis makes it advisable to delay splenectomy until after 6 years of age if possible. At the time of splenectomy, it is important to identify and remove any accessory spleens. If gallstones are present, cholecystectomy should be performed. Although spherocytosis persists following splenectomy, hemolysis is alleviated and clinical cure of the anemia is achieved for most patients. Patients with recessively inherited spherocytosis are exceptions. Although they are significantly benefited by splenectomy, their anemia is not completely corrected. Splenectomy reduces hemolysis in all patients and thereby decreases the risk for development of pigment gallstones. Excision of an enlarged spleen removes the danger of traumatic rupture.