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
ISSN1532-432X
AutoresJohn S. Waye, M. Patterson, Barry Eng, M-F. Scully,
Tópico(s)Genomic variations and chromosomal abnormalities
ResumoWe 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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