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  • Title: The simultaneous presence of alpha- and beta-thalassaemia alleles: a pitfall of thalassaemia screening.
    Author: Law HY, Chee MK, Tan GP, Ng IS.
    Journal: Community Genet; 2003; 6(1):14-21. PubMed ID: 12748434.
    Abstract:
    OBJECTIVE: To compare the efficacy of routine haematological tests and molecular analysis in the diagnosis of double heterozygous alpha- and beta-thalassaemia. METHODS: Screening was carried out in extended family members from 125 families registered in the National Thalassaemia Registry, known to have both alpha- and beta-thalassaemia carriers. RESULTS: Eighty-three individuals from 59 families were identified to be double heterozygous for alpha- and beta-thalassaemia only upon molecular analyses. Among 40 married individuals, 1 was at 25% risk for having beta-thalassaemia major children and 6 for having Bart's hydrops pregnancies. CONCLUSION: Molecular analysis must be used for the accurate diagnosis of double heterozygous alpha- and beta-thalassaemia for proper risk ascertainment, especially in regions with a high prevalence of both types of thalassaemia.
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