A family case of pyruvate kinase variant, PK 'Nichinan'.

doi:10.2169/internalmedicine1962.29.168

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Article

A family case of pyruvate kinase variant, PK 'Nichinan'.

Japanese journal of medicine - 1 Jan 2000

Uno H, Sawano F, Fujii H, Miwa S, Tsuda K

Abstract excerpt

A case of congenital hemolytic anemia caused by pyruvate kinase (PK) deficiency variant designated PK 'Nichinan' is presented. A 29-old patient with a history of anemia and hepatosplenomegaly had an episode of aplastic crisis associated with fever, abdominal symptoms and worsening hepatosplenomeg...

Topics

Adult
Anemia, Hemolytic, Congenital
Erythrocytes
Genetic Variation
Heterozygote
Humans
Male
Mutation
Pyruvate Kinase

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