Molecular characterization of beta-thalassemia in north Jordan.

Hemoglobin

Department of Biological Sciences, Yarmouk University, Irbid, Jordan.

Published: September 1994

AI Article Synopsis

  • * A total of 13 different mutations were identified, with three Mediterranean mutations accounting for 54% of the tested chromosomes and six additional Mediterranean alleles comprising 24%.
  • * Additionally, some mutations were linked to Arabian, Southeast Asian/Indian, Iranian/Egyptian, or Black populations, while four beta-thalassemia mutations remained unidentified in the study.

Article Abstract

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.

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http://dx.doi.org/10.3109/03630269408996198DOI Listing

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