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Hb Fontainebleau (HBA2: c.64G > C) in the United Arab Emirates.
Turner, Andrew; Sasse, Jurgen; Varadi, Aniko.
Afiliação
  • Turner A; Department of Pathology and Laboratory Medicine , Sheikh Khalifa Medical City, Abu Dhabi , United Arab Emirates.
Hemoglobin ; 38(3): 216-20, 2014.
Article em En | MEDLINE | ID: mdl-24826794
ABSTRACT
Hb Fontainebleau (HBA2 c.64G > C) is a rare α-globin variant, which has previously been described in only 10 individuals worldwide. We report here 12 additional cases identified in our laboratory. These included the first case of a homozygosity for Hb Fontainebleau and cases in which Hb Fontainebleau occurred in combination with deletional and nondeletional α-thalassemia (α-thal). The prevalence of Hb Fontainebleau in the samples submitted to our laboratory for premarital hemoglobinopathy screening was 0.24%, the highest reported prevalence to date, indicating that this is a comparatively common variant in the United Arab Emirates (UAE).
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Hemoglobinas Anormais / Talassemia alfa / Homozigoto Tipo de estudo: Prevalence_studies / Prognostic_studies Limite: Adult / Aged / Female / Humans / Male País/Região como assunto: Asia Idioma: En Revista: Hemoglobin Ano de publicação: 2014 Tipo de documento: Article País de afiliação: Emirados Árabes Unidos

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Hemoglobinas Anormais / Talassemia alfa / Homozigoto Tipo de estudo: Prevalence_studies / Prognostic_studies Limite: Adult / Aged / Female / Humans / Male País/Região como assunto: Asia Idioma: En Revista: Hemoglobin Ano de publicação: 2014 Tipo de documento: Article País de afiliação: Emirados Árabes Unidos