Human Heredity

Original Paper

Spectrum of β-Thalassaemia Mutations in the Population of Saudi Arabia

Hasounah F.H.a · Sejeny S.A.a · Omer J.A.a · Old J.M.b · Oliver R.W.A.c

Author affiliations

aHaematology Department, King Abdulaziz University Hospital, Jeddah, Saudi Arabia; bInstitute of Molecular Medicine, John Radcliffe Hospital, Oxford, and cDepartment of Biological Sciences, University of Salford, UK

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Hum Hered 1995;45:231–234

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Article / Publication Details

First-Page Preview
Abstract of Original Paper

Received: September 20, 1994
Accepted: January 11, 1995
Published online: September 03, 2008
Issue release date: 1995

Number of Print Pages: 4
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

A study of β-thalassaemia alleles in 29 β-thalassaemia homozygotes and HbS/β-thalassaemia patients from western Saudi Arabia using the allele-specifïc priming technique of the polymerase chain reaction revealed a total of five mutations. The spectrum of mutations found in the western region is significantly different to that previously reported in the eastern region, and brings the total number of mutations observed in Saudi Arabian nationals to ten. A comparison of the types and frequencies of the Saudi Arabian mutations with those found in neighbouring Arab countries is made.

© 1995 S. Karger AG, Basel




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Article / Publication Details

First-Page Preview
Abstract of Original Paper

Received: September 20, 1994
Accepted: January 11, 1995
Published online: September 03, 2008
Issue release date: 1995

Number of Print Pages: 4
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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