Subject(s)
Anemia, Hemolytic, Congenital Nonspherocytic/enzymology , Anemia, Hemolytic, Congenital Nonspherocytic/genetics , Glucosephosphate Dehydrogenase/genetics , Point Mutation , Adult , Anemia, Hemolytic, Congenital Nonspherocytic/blood , Brazil , Glucosephosphate Dehydrogenase/blood , Haplotypes , Humans , Male , Polymerase Chain Reaction , Polymorphism, Single-Stranded Conformational , Sequence Analysis, DNAABSTRACT
A glucose-6-phosphate dehydrogenase (G6PD) variant was studied in a mulatto patient with chronic nonspherocytic hemolytic anemia. This variant has reduced activity, increased thermolability, a reduced Michaelis constant for glucose-6-phosphate, slightly increased electrophoretic mobility, a biphasic pH activity profile, high 2-deoxyglucose-6-phosphate utilization, normal diamino nicotinamide adenine dinucleotide phosphate utilization and a peak of elution profile after G6PD B. The electrophoretic, kinetic, and chromatographic properties of this erythrocyte G6PD variant allow the conclusion that G6PD Varadero is probably a new variant.
Subject(s)
Anemia, Hemolytic, Congenital Nonspherocytic/blood , Anemia, Hemolytic, Congenital/blood , Glucosephosphate Dehydrogenase/blood , Glucosephosphate Dehydrogenase/genetics , Anemia, Hemolytic, Congenital Nonspherocytic/epidemiology , Anemia, Hemolytic, Congenital Nonspherocytic/genetics , Child, Preschool , Cuba , Electrophoresis, Starch Gel , Glucosephosphate Dehydrogenase Deficiency , Humans , Hydrogen-Ion Concentration , Male , NADP/bloodABSTRACT
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.