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  Homozygous Hb Stanleyville-II associated with genotype -a3.7 /-a3.7 in two Brazilian families
10/07/2011

NARA DE OLIVEIRA CARVALHO
MG - BELO HORIZONTE
Detecção da variante Stanleyville-II associada com o genótipo -a3.7 /-a3.7 em duas crianças triadas pelo programa estadual de triagem neonatal de Minas Gerais

Área(s) de Atuação que o Presente Artigo trata
Biologia
Biotecnologia e Produção
Biologia Molecular


Introduction: Several hemoglobin variants have electrophoretic behavior similar to hemoglobin S, which may lead to false diagnosis for sickle-cell disorders in newborn screening programs. A homozy- gous hemoglobin with S mobility was detected in two unrelated babies in Brazil. Methods: Isoelectric focusing and high-performance liquid chroma- tography assays, gene sequencing, and restriction fragment length polymorphism with AfeI were used to characterize the hemoglobin. Results: Hb Stanleyville-II and )a3.7 /)a3.7 typeIdeletioninthe a-globin gene was diagnosed. Parents were heterozygous for both Hb Stanleyville-II and a-thalassemia. Hypochromia and microcytosis were probably due to the homozygous a-thalassemia. Conclusion: Stanleyville-II gene mutation is HBA2:c.237C>A, or C>G, and this information on the Globin Gene Server should be updated; AfeI test is a fast and accurate method to detect it; NBS programs should consider the possibility of Hb Stanleyville-II whenever IEF shows one band in the HbS position, and another one between S and C.

NARA DE OLIVEIRA CARVALHO
MG - BELO HORIZONTE

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