Article
Homozygous missense mutation (band 3 Fukuoka: G130R): a mild form of hereditary spherocytosis with near-normal band 3 content and minimal changes of membrane ultrastructure despite moderate protein 4.2 deficiency.
British journal of haematology - 1 Sept 1998
Inoue T, Kanzaki A, Kaku M, Yawata A, Takezono M, Okamoto N, Wada H, Sugihara T, Yamada O, Katayama Y, Nagata N, Yawata Y
Abstract excerpt
The characteristics of phenotypic expression were studied in a Japanese family with hereditary spherocytosis and an extremely rare homozygous missense mutation of the band 3 gene (band 3 Fukuoka: G130R). The homozygous unsplenectomized proband was a 29-year-old male with compensated haemolytic anaemia (red cell count 4.21 x 10(12)/l, reticulocytes 278 x 10(9)/l, and indirect bilirubin 44 micromol/l). His red cell...
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