أعرض في EDS

Spectrum of β-Thalassemia Mutations in Egypt

التفاصيل البيبلوغرافية
العنوان: Spectrum of β-Thalassemia Mutations in Egypt
المؤلفون: Aref Mk, Borys S, John S. Waye, Barry Eng, Afify Z, Badr El-Din Om, David H.K. Chui, Margaret F. Patterson
المصدر: Hemoglobin. 23:255-261
بيانات النشر: Informa UK Limited, 1999.
سنة النشر: 1999
مصطلحات موضوعية: Heterozygote, Pediatrics, medicine.medical_specialty, Genotype, Clinical Biochemistry, Population, Prenatal diagnosis, Cohort Studies, Consanguinity, Middle East, medicine, Humans, Genetic Testing, education, Alleles, Genetics (clinical), education.field_of_study, Mediterranean Region, business.industry, Incidence (epidemiology), Homozygote, beta-Thalassemia, Biochemistry (medical), Beta thalassemia, Sequence Analysis, DNA, Hematology, medicine.disease, Globins, Mutation, Cohort, Egypt, business, Carrier screening
الوصف: 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.
تدمد: 1532-432X
0363-0269
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7f1abb8abee7a8777cf2c4ece7d0548a
https://doi.org/10.3109/03630269909005706
رقم الأكسشن: edsair.doi.dedup.....7f1abb8abee7a8777cf2c4ece7d0548a
قاعدة البيانات: OpenAIRE
الوصف
تدمد:1532432X
03630269