Two New δ-Globin Mutations: Hb A 2 -Ninive [δ133(H11)Val → Ala] and A δ + -Thalassemia Mutation [− 31 (A → G)] in the Tata Box of the δ-Globin Gene

Artigo Revisado por pares

Two New δ-Globin Mutations: Hb A 2 -Ninive [δ133(H11)Val → Ala] and A δ + -Thalassemia Mutation [− 31 (A → G)] in the Tata Box of the δ-Globin Gene

2005; Taylor & Francis; Volume: 29; Issue: 2 Linguagem: Inglês

10.1081/hem-58593

ISSN

1532-432X

Autores

Hannes Frischknecht, Fabrizio Dutly,

Tópico(s)

Iron Metabolism and Disorders

Resumo

Two new δ-globin gene mutations have been detected: one leads to a fairly stable Hb A2 variant differing electrophoretically only minimally from normal Hb A2, and the second causes a δ+-thalassemia (thal) phenotype.

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Two New δ-Globin Mutations: Hb A 2 -Ninive [δ133(H11)Val → Ala] and A δ + -Thalassemia Mutation [− 31 (A → G)] in the Tata Box of the δ-Globin Gene