Volumen: 16 # Number : 2
Publication Date : Mayo - Agosto Year: 2012
Authors: Attie M., Cocca A., Basack N., Schwalb G., Drelichman G., Aversa L.
Abstract: Hereditary Spherocytosis (HS) is the most common
hereditary defects of red cell membrane and the clinical
presentation is a hemolytic anemia in which the defect
of spectrin or proteins involved in anchoring of spectrin
to the membrane, lead to a reduction in red cell surface,
resulting in a selective sequestration by the spleen and a
shortened red cell life span erythrocyte shorter half-life.
Several genes encoding membrane proteins of the cytoskeleton
of the red cell are known. Different molecular
mechanisms may generate the same defect of membrane
protein in HS. The particular protein defect does not
influence the clinical management of patients but may
confirm the mode of transmission of the disease. The
clinical severity varies from asymptomatic to severe
hemolysis. The osmotic fragility test, acidified glycerol
lysis and autohemolysis have low sensitivity and specificity,
so, other studies should be performed in mild
or atypical presentation. The treatment is consider with
folic acid supplementation. Splenectomy is indicated in
severe forms and may be considered in moderate forms.
Key words: Spherocytosis, Hemolysis, Erythrocyte
Pages : 106-113
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