Two new hemoglobin variants: Hb Tallahassee [α3(A1)SerâTyr; HBA2: c.11C>A] and Hb madison-NC [ß119(GH2)GlyâSer; HBB: c.358G>A].
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)SerâTyr; HBA2: c.11C > A] named Hb Tallahassee and the other is a ß-globin chain variant located at codon 119 [ß119(GH2)GlyâSer; HBB: c.358G > A] called Hb Madison-NC.
Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Fenótipo
/
Códon
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Hemoglobinas Anormais
/
Alfa-Globinas
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Mutação
Tipo de estudo:
Prognostic_studies
Limite:
Child
/
Humans
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Infant
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Male
Idioma:
En
Revista:
Hemoglobin
Ano de publicação:
2014
Tipo de documento:
Article
País de afiliação:
Estados Unidos
País de publicação:
Reino Unido