" /> Anemia, congenital, nonspherocytic hemolytic, 5 - CISMeF





Preferred Label : Anemia, congenital, nonspherocytic hemolytic, 5;

Symbol : CNSHA5;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Hemolytic anemia, nonspherocytic, due to hexokinase deficiency;

Description : Hexokinase deficiency is an autosomal recessive disorder characterized by early-onset severe hemolytic anemia (summary by van Wijk et al., 2003).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the hexokinase 1 gene (HK1, 142600.0001);

Laboratory abnormalities : Hyperbilirubinemia; Decreased hexokinase activity in red blood cells;

Prefixed ID : #235700;

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31/07/2025


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