Human Heredity
Original Paper
Molecular Defects in Beta-Thalassaemia in the Population of Saudi ArabiaEl-Hazmi M.A.F.a · Al-Swailem A.R.b · Warsy A.S.caMedical Biochemistry Department, College of Medicine and King Khalid Hospital, King Saud University, bMinistry of Health, and cDepartment of Biochemistry, College of Science, King Saud University, Riyadh, Saudi Arabia
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Article / Publication Details
Received: May 10, 1993
Accepted: March 09, 1995
Published online: September 03, 2008
Issue release date: 1995
Number of Print Pages: 8
Number of Figures: 0
Number of Tables: 0
ISSN: 0001-5652 (Print)
eISSN: 1423-0062 (Online)
For additional information: https://www.karger.com/HHE
Abstract
The β-thalassaemias are a heterogeneous group of inherited disorders caused by mutations in and around the structural gene of the β-chain of the adult haemoglobin (HbA). Studies at the gene level have identified a large number of β-thalassaemia gene variations in different populations. These findings have implications for the use of molecular diagnosis for genetic counselling and prenatal detection of the β-thalassaemias. In our unit, we initiated studies to investigate the molecular defects in β-thalassaemias in Saudi Arabia using amplification-refractory mutation systems, dot blot analysis and restriction endonuclease analysis, and identified mutations producing β+- and β°-thalassaemias. Twenty of the mutations encountered in the Asian, Mediterranean, Chinese and other Arab populations were investigated. The most commonly encountered mutations in Saudi β-thalassaemia patients were IVS-I-110, IVS-II-1, CD 39, IVS-I-5 and IVS-I 3’ end (–25), while frameshifts at CD 8/9, Cap+1 (A → C) and CD 6 mutations were identified at a low frequency. These mutations account for 84.94% of the total β -thalassaemia mutations. The remaining 15 % remain unknown. This is the first report on the type and nature of mutations in Saudi β -thalassaemia patients. It presents frequencies of twenty mutations and emphasises the need for further detailed investigations to clarify the whole spectrum of β -thalassaemia mutations in the Saudi population.
© 1995 S. Karger AG, Basel
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Article / Publication Details
Received: May 10, 1993
Accepted: March 09, 1995
Published online: September 03, 2008
Issue release date: 1995
Number of Print Pages: 8
Number of Figures: 0
Number of Tables: 0
ISSN: 0001-5652 (Print)
eISSN: 1423-0062 (Online)
For additional information: https://www.karger.com/HHE
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