Artigo Revisado por pares

β-Thalassemia intermedia in a lebanese child due to homozygosity for the -88 (C→T) Mutation

1994; Taylor & Francis; Volume: 18; Issue: 6 Linguagem: Inglês

10.3109/03630269409045770

ISSN

1532-432X

Autores

John S. Waye, M. Patterson, Barry Eng, M-F. Scully,

Tópico(s)

Genomic variations and chromosomal abnormalities

Resumo

We report a case of β-thalassemia intermedia involving a 3-year-old male child of Lebanese descent. Molecular studies of the family showed that he is homozygous for the -88 (C→T) β+-thalassemia mutation. This mutation is the second most common cause of β-thalassemia in Black populations, and has also been reported in Asian Indians. A review of Lebanese β-thalassemia cases revealed considerable mutation heterogeneity and excess homozygosity due to consanguinity.

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