Please use this identifier to cite or link to this item: http://repositorio.unicamp.br/jspui/handle/REPOSIP/195371
Type: Artigo de periódico
Title: Mild Hemolysis In A Girl With G6pd Sumaré (class I Variant) Associated With G6pd A-.
Author: Saad, Sara T O
Costa, Fernando F
Abstract: In the present study we describe the clinical and laboratory features of a female child, a compound heterozygote for glucose-6-phosphate dehydrogenase (G6PD) Sumaré (1292T-->G) and African variants (202G-->A). G6PD Sumaré is a variant causing chronic nonspherocytic hemolytic anemia. The child had neonatal jaundice 2 days after birth and needed phototherapy for 8 days. Since then, she has not had episodes of dark urine or new episodes of jaundice. She has not had hemolytic crises in spite of five respiratory infections and antibiotics administration. Laboratory data showed a reticulocytosis (5.6%) without anemia and serum unconjugated bilirubin at the upper limit of the normalcy. No hemoglobin and hemosiderin in the urine were detected. G6PD activity at 37 degrees C was 1.15 UI/g Hb and G6PD cellulose acetate electrophoresis at pH 9.0 revealed two bands, in equal amounts, with normal and faster migration, respectively. She was homozygous for the normal (TA)6(TA)6 repeat in the UGT1A1 promoter. We conclude that the association of G6PD Sumaré and G6PD A- gave rise to a very mild chronic hemolysis, and the red cell population containing G6PD A- is probably enough to protect against severe chronic hemolysis.
Subject: Anemia, Hemolytic
Exons
Family Health
Female
Glucosephosphate Dehydrogenase
Hematologic Tests
Heterozygote
Humans
Phenotype
Polymorphism, Single Nucleotide
Sequence Analysis, Dna
Rights: fechado
Identifier DOI: 
Address: http://www.ncbi.nlm.nih.gov/pubmed/12737938
Date Issue: -1-Uns- -1
Appears in Collections:Unicamp - Artigos e Outros Documentos

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