Glucose phosphate isomerase deficiency with hereditary nonspherocytic hemolytic anemia.
Eight children (5 living, 3 deceased) with severe hereditary nonspherocytic hemolytic anemia caused by glucose phosphate isomerase deficiency have been observed in two Kentucky and Indiana families. All affected children were severely anemic in early life. Three deaths occurred in young patients who did not receive adequate transfusions of blood or whose parents refused to permit splenectomy. Splenectomy generally abolishes the requirement for blood transfusion. No patient has required regular transfusion of blood after puberty. Growth and development have been surprisingly normal and no patient has died of infection. The anemia is expressed as an autosomal recessive trait, but the enzyme variant can be detected in hematologically normal heterozygotes. The abnormal isomerase molecule is heat labile and is contained in neutrophils and lymphocytes as well as in erythrocytes.
D000328:Adult; D000746:Anemia, Hemolytic, Congenital Nonspherocytic / Q000097:blood / Q000201:enzymology* / Q000235:genetics / Q000601:surgery; D002648:Child; D002675:Child, Preschool; D004912:Erythrocytes / Q000201:enzymology; D005260:Female; D006801:Humans; D007196:Indiana; D007223:Infant; D007231:Infant, Newborn; D007629:Kentucky; D008297:Male; D008659:Metabolic Diseases / Q000235:genetics; D010375:Pedigree; D011379:Prognosis; D013156:Splenectomy