Abstract
A total of 38 patients with β-thalassemia intermedia from 30 families were studied. Twelve of the thirty unrelated patients had β0-thalassemia which was due to a homozygosity for one of two different thalassemia defects, namely the frameshift at codon 8, and the IVS-II-1 G→A mutation. Another mild variation, a β+-thalassemia, was a homozygosity for the mutation of T→C at position 6 of I VS-1 (10 patients). Compound heterozygosities for mild thalassemic determinants or for one mild and one severe β-thalassemic determinant were also found in some patients with β-thalassemia intermedia. The mutations at β-39 and IVS-I-110 were the most commonly occurring thalassemic determinants in these patients. Correlations between genotype and phenotype indicated significant differences in some of the hematological parameters among patients with the IVS-I-6 and the frameshift at codon 8, IVS-I-6 and IVS-II-1, and the frameshift at codon 8 and IVS-II-1 mutations.
Original language | English (US) |
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Pages (from-to) | 22-27 |
Number of pages | 6 |
Journal | Acta Haematologica |
Volume | 81 |
Issue number | 1 |
DOIs | |
State | Published - 1989 |
Keywords
- Determinant
- Frameshift at codon 8
- Genotype
- Haplotype
- Mutation
- Phenotype
- β-39
- β-Thalassemia intermedia
ASJC Scopus subject areas
- Hematology