Abstract

HERRERA GARCIA, Mayelín  and  ESTRADA DEL CUETO, Marianela. Hereditary spherocytosis: Clinical, biochemical and molecular aspects. Rev Cubana Hematol Inmunol Hemoter [online]. 2002, vol.18, n.1, pp. 0-0. ISSN 1561-2996.

Hereditary spherocytosis(HS) is a disease characterized by hemolytic anemia of variable severity, with spherocytes in peripheral blood and a clinical response to splenectomy. The development of new techniques allowed finding out the first biochemical alterations in erythrocyte membrane proteins and later on, the recombinant DNA techniques made possible to detect molecular alternations. HS is a very heterogeneous disease caused by an intrinsic defect of red cells; there are other secondary disorders to this affection. The most used test for diagnosing HS is the osmotic fragility of the red cell. It has been proved that this disease is caused by defects in proteins participating in vertical interactions between membrane skeleton and lipid bi-layer. The treatment of choice in HS is splenectomy, since this is the most effective method in the control of anemia, although red cell survival is still short and spherocytes do not disappear. This procedure is recommended for patients with severe hemolytic anemia and moderately asymptomatic individuals who have vesicular lithiasis

Keywords : SPHEROCYTOSIS, HEREDITARY [diagnosis]; SPHEROCYTOSIS, HEREDITARY [genetics]; DNA RECOMBINANT; MEMBRANE PROTEINS [chemistry]; RECOMBINANT PROTEINS [chemistry]; SPLENECTOMY; ERYTHROCYTE MEMBRANE [chemistry].

        · abstract in Spanish     · text in Spanish     · Spanish ( pdf )