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Two new hemoglobin variants: Hb Tallahassee [α3(A1)Ser→Tyr; HBA2: c.11C>A] and Hb madison-NC [ß119(GH2)Gly→Ser; HBB: c.358G>A].
Kutlar, Ferdane; Unguru, Yoram; Dixon, Natalia; Patel, Niren; Bailey, Lakiea; Zhuang, Lina; Carmichael, Harris; Kutlar, Abdullah.
Afiliação
  • Kutlar F; Department of Medicine, Medical College of Georgia/Georgia Regents University , Augusta, Georgia , USA.
Hemoglobin ; 38(3): 207-10, 2014.
Article em En | MEDLINE | ID: mdl-24471829
Of the 1570 reported hemoglobin (Hb) variants detected to date, 390 are α2-globin chain (some variants have yet to be identified by DNA analyses and are therefore presumed) and 827 are the result of mutations of the ß-globin chain. Due to their location on the Hb structure, only a minority of these variants result in a clinical phenotype; most are silent and are detected during routine surveillance, are found incidentally during other disease-related investigations or following newborn screening programs. In this report we discuss phenotype/genotype and molecular characteristics of two new Hb variants, both of which were clinically silent. One is an α2-globin chain variant located at codon 3 [α3(A1)Ser→Tyr; HBA2: c.11C > A] named Hb Tallahassee and the other is a ß-globin chain variant located at codon 119 [ß119(GH2)Gly→Ser; HBB: c.358G > A] called Hb Madison-NC.
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Fenótipo / Códon / Hemoglobinas Anormais / Alfa-Globinas / Mutação Tipo de estudo: Prognostic_studies Limite: Child / Humans / Infant / Male Idioma: En Revista: Hemoglobin Ano de publicação: 2014 Tipo de documento: Article País de afiliação: Estados Unidos País de publicação: Reino Unido

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Fenótipo / Códon / Hemoglobinas Anormais / Alfa-Globinas / Mutação Tipo de estudo: Prognostic_studies Limite: Child / Humans / Infant / Male Idioma: En Revista: Hemoglobin Ano de publicação: 2014 Tipo de documento: Article País de afiliação: Estados Unidos País de publicação: Reino Unido