Two unstable beta chain variants associated with beta-thalassemia: Hb Miami [beta116(G18)his-->Pro], and Hb Hershey [beta70(E14)Ala-->Gly], and a second unstable Hb variant at 170: Hb Abington [beta70(E14)Ala-->Pro].
Hemoglobin
; 29(4): 241-8, 2005.
Article
em En
| MEDLINE
| ID: mdl-16370483
We report on three previously undescribed unstable hemoglobin (Hb) variants: Hb Miami, Hb Hershey and Hb Abington. Hb Miami was associated with a beta(+)-thalassemia (thal) mutation [IVS-I-110 (G-->A)], whereas Hb Hershey was associated with a B0-thal mutation [IVS-I-1 (G-->A)]. Hb Hershey also has decreased oxygen affinity. These three Hb variants illustrate the range of clinical severity that can be seen with unstable Hb variants, particularly when combined with a thalassemic mutation.
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Base de dados:
MEDLINE
Assunto principal:
Globinas
/
Hemoglobinas Anormais
/
Talassemia beta
/
Mutação de Sentido Incorreto
Tipo de estudo:
Risk_factors_studies
Limite:
Adult
/
Female
/
Humans
/
Infant
/
Male
/
Middle aged
Idioma:
En
Revista:
Hemoglobin
Ano de publicação:
2005
Tipo de documento:
Article
País de afiliação:
Estados Unidos