Beta-thalassemia intermedia in a Lebanese child due to homozygosity for the -88 (C-->T) mutation.

doi:10.3109/03630269409045770

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Article

Beta-thalassemia intermedia in a Lebanese child due to homozygosity for the -88 (C-->T) mutation.

Hemoglobin - 1 Nov 1994

Waye J S, Patterson M, Eng B, Scully M F

Abstract excerpt

We report a case of beta-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) beta (+)-thalassemia mutation. This mutation is the second most common cause of beta-thalassemia in Black populations, and has also been reported in Asian Indians. A review of Lebanese beta-thalassemia cases revealed considerable...

Topics

Adult
Alleles
Base Sequence
Child, Preschool
Codon
DNA Mutational Analysis
Female
Gene Frequency
Globins
Haplotypes
Homozygote
Humans

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Lebanon

Male

Molecular Sequence Data

Point Mutation

Polymerase Chain Reaction

Promoter Regions, Genetic

Source

Open in PubMed

Identifiers

PMID: 7713742
DOI: 10.3109/03630269409045770

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-7713742-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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