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GLUCOSE-6-PHOSPHATE DEHYDROGENASE DEFICIENCY

GLUCOSE-6-PHOSPHATE DEHYDROGENASE DEFICIENCY
ANEMIA, NONSPHEROCYTIC HEMOLYTIC, DUE TO G6PD DEFICIENCY
300908
OMIM = Online Mendelian Inheritance of Men
466026
Glucose-6-phosphate 1-dehydrogenase
1.1.1.49
Xq28
D55.0
rare
X-linked recessive
mutation in the G6PD gene
> 160 molecular variants
Laboratory findings    Bilirubin inc (serum)
    Hemoglobine dec (blood)
    Retikulocytes inc (blood)
Symptoms    anemia
    gallstones, cholelithiasis
    hemolysis
    hydrops fetalis
    infections (severe or recurrent)
    jaundice
    kernicterus
    no clinical symptoms (probably)
    onset, childhood
    onset, neonatal
    pain, abdominal
    splenomegaly (large spleen)