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• W2103676374 abstract "Carrier screening and prenatal diagnosis programs have successfully reduced the incidence of β-thalassemia (thal) in countries where the carrier rates are high (1-3). The incidence of β-thal is particularly high in Egypt (4) due to the combined effects of high carrier rates (5) and consanguineous marriages (6). As a prerequisite to establishing effective programs for prenatal diagnosis, it is important to identify the spectrum of mutations within the population. To this end, we have surveyed the β-thal mutations for a cohort of 55 transfusion-dependent β-thal patients from the Alexandria region of Egypt and the adjacent rural governorates. Affected siblings were not included in the study. The patients were either Moslem (46/55, 84%) or Christian (9/55, 16%). Almost three-quarters (40/55, 73%) of the patients had consanguineous parents." @default.
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• W2103676374 date "1999-01-01" @default.
• W2103676374 modified "2023-09-27" @default.
• W2103676374 title "Spectrum of β-Thalassemia Mutations in Egypt" @default.
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• W2103676374 doi "https://doi.org/10.3109/03630269909005706" @default.
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