Hereditary hemolytic anemia caused by diverse point mutations of pyruvate kinase gene found in Japan and Hong Kong.

@article{Kanno1994HereditaryHA,
  title={Hereditary hemolytic anemia caused by diverse point mutations of pyruvate kinase gene found in Japan and Hong Kong.},
  author={Hitoshi Kanno and Dong-wang Wei and Larry Chan and Hideaki Mizoguchi and Michiko Ando and Tatsutoshi Nakahata and Kuniaki Narisawa and Hiroshi Fujii and Souichi Miwa},
  journal={Blood},
  year={1994},
  volume={84 10},
  pages={
          3505-9
        }
}
We identified four distinct point mutations in homozygous pyruvate kinase (PK) variants in Japanese and Chinese patients with chronic nonspherocytic hemolytic anemia. All gene abnormalities were missense mutations that caused single amino acid substitutions. 1261A (Q421K) and 1436A (R436H), which were identified in PK Sendai and PK Shinshu, had been found in unrelated Japanese and Amish PK variants, respectively. The clinical severity and extremely low residual erythrocyte PK activity of PK… CONTINUE READING

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