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.

@article{Inoue1998HomozygousMM,
  title={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.},
  author={Tomoyuki Inoue and Akio Kanzaki and Masato Kaku and Ayumi Yawata and M Takezono and Nobuhiko Okamoto and Hideho Wada and Takashi Sugihara and O. Yamada and Yoshifumi Katayama and Naokazu Nagata and Yoshihito Yawata},
  journal={British journal of haematology},
  year={1998},
  volume={102 4},
  pages={932-9}
}
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 band 3 (B3) protein demonstrated a 9.3% reduction and his protein 4.2 (P4.2) level… CONTINUE READING

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