The Simultaneous Presence of α- and β-Thalassaemia Alleles: A Pitfall of Thalassaemia Screening

Objective: To compare the efficacy of routine haematological tests and molecular analysis in the diagnosis of double heterozygous α- and β-thalassaemia. Methods: Screening was carried out in extended family members from 125 families registered in the National Thalassaemia Registry, known to have bot...

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Bibliographic Details
Published in:Community genetics 2003, Vol.6 (1), p.14-21
Main Authors: Law, H.Y., Chee, M.K.L., Tan, G.P., Ng, I.S.L.
Format: Article
Language:English
Subjects:
Alleles
alpha-Thalassemia - complications
alpha-Thalassemia - diagnosis
alpha-Thalassemia - genetics
beta-Thalassemia - complications
beta-Thalassemia - diagnosis
beta-Thalassemia - genetics
Family
Female
Genetic Testing - methods
Humans
Male
Original Paper
Treatment Outcome
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Summary:Objective: To compare the efficacy of routine haematological tests and molecular analysis in the diagnosis of double heterozygous α- and β-thalassaemia. Methods: Screening was carried out in extended family members from 125 families registered in the National Thalassaemia Registry, known to have both α- and β-thalassaemia carriers. Results: Eighty-three individuals from 59 families were identified to be double heterozygous for α- and β-thalassaemia only upon molecular analyses. Among 40 married individuals, 1 was at 25% risk for having β-thalassaemia major children and 6 for having Bart’s hydrops pregnancies. Conclusion: Molecular analysis must be used for the accurate diagnosis of double heterozygous α- and β-thalassaemia for proper risk ascertainment, especially in regions with a high prevalence of both types of thalassaemia.
ISSN:1422-2795
1662-4246
1422-2833
1662-8063
DOI:10.1159/000069539