Hereditary spherocytosis

Hereditary spherocytosis is a congenital hemolytic anemia with a wide clinical spectrum (from symptom-free carriers to severe hemolysis) characterized by anemia, variable jaundice, splenomegaly and cholelithiasis.

Spherocytosis

The presence of erythrocytes that are sphere-shaped.


Total: 2

                       


(per page)
PMID (PMCID)
11318798
 MIXED_SAMPLE Infant
Coinheritance of two alpha-spectrin gene defects in a recessive spherocytosis family.
Dhermy D, Steen-Johnsen J, Bournier O, Hetet G, Cynober T, Tchernia G, Grandchamp B.
Clin Lab Haematol. 2000;22(6):329-36.
We studied a recessive hereditary spherocytosis (HS) family from Norway in which all four children had haemolytic spherocytosis while spectrin (Sp) deficiency was detected in the proband.
7967056
 FEMALE Middle Aged
[Hereditary spherocytosis associated with non-Hodgkin's lymphoma in the spleen].
Arisawa K, Morita S, Kojima H, Inui A, Yoshino G, Hayashi Y, Kasuga M.
Rinsho Ketsueki. 1994;35(9):871-5.
We diagnosed her hereditary spherocytosis (HS) from spherocytosis and family history and found a tumor in her enlarged spleen.