Your browser doesn't support javascript.
loading
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].
Hoyer, James D; Baxter, Jason K; Moran, Anna M; Kubic, Kathleen S; Ehmann, W Christopher.
Afiliação
  • Hoyer JD; Department of Laboratory Medicine and Pathology, Mayo Clinic, 1020 Hilton Building, 200 First St. SW, Rochester, MN 55905, USA. jhoyer@mayo.edu
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.
Assuntos
Buscar no Google
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
Buscar no Google
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