Molecular characterization of beta-thalassemia in north Jordan.
We have studied the beta-thalassemia mutations in 91 chromosomes of 43 patients with beta-thalassemia major and five with Hb S-beta-thalassemia, aged 6 months to 24 years. Many are blood transfusion-dependent and are being treated at the major hospital, the Princess Basma Hospital, in Irbid, Jordan. As many as 13 different mutations have been identified; three Mediterranean mutations [IVS-I-110 (G-->A), IVS-II-I (G-->A), and IVS-II-745 (C-->G)] were present in 54% of the chromosomes tested, while six other Mediterranean alleles were found in 24% of the chromosomes, for a total of 78% of Mediterranean origin. Sixteen chromosomes carried mutations which were observed in Arabian, Southeast Asian/Indian, and Iranian/Egyptian or Black populations; four beta-thalassemia mutations remained unidentified.
Department of Biological Sciences, Yarmouk University, Irbid, Jordan.
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Sadiq
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Huisman
D000293:Adolescent; D000328:Adult; D000483:Alleles; D002648:Child; D002675:Child, Preschool; D005006:Ethnicity / Q000235:genetics; D005787:Gene Frequency; D005838:Genotype; D005914:Globins / Q000235:genetics*; D006801:Humans; D007597:Jordan / Q000453:epidemiology; D015995:Prevalence; D012805:Sickle Cell Trait / Q000150:complications / Q000235:genetics; D017086:beta-Thalassemia / Q000150:complications / Q000453:epidemiology / Q000235:genetics*
D005914:Globins