Spectrum of β-thalassaemia mutations in Bahrain
Joint Authors
al-Arrayid, Shaykhah Salim
Jasim N.
al-Mukharaq, Husayn
Merghoub T.
Krishnamoorthy, R.
Source
Issue
Vol. 22, Issue 1 (31 Mar. 2000), pp.1-8, 8 p.
Publisher
King Hamad University Hospital
Publication Date
2000-03-31
Country of Publication
Bahrain
No. of Pages
8
Main Subjects
Abstract EN
-Objectives : To study the molecular characterization of β-thalassemia defects among Bahrainis.
Methods : We used a variety of polymerase chain reaction (PCR)-based procedures including reverse dot blot (RDB), denaturing gradient gel electrophoresis (DGGE) and DNA sequencing, to study the β-thal mutation in 87 Bahraini individuals from 51 unrelated Bahraini families.
Results : Thirteen different β-thal mutations were identified.
Four mutations (Intervening Sequence I (IVSI)-3' end (-25 base pairs (bp)) deletion; Codon (Cd) 39 (C→T) and IVSI-5 (G→C), account for 80 % of all β-thal alleles.
Conclusion : We conclude that IVSI-3’ end (-25bp) deletion is the major β-thalassemic allele in Bahrain.
Recommendations : Based upon our findings, a preventive approach of β-thalassemia needs to be embloyed for the Bahraini people.
This study can be used in implementing a cost effective strategy for screening and diagnosis of Beta thal among Bahrainis.
American Psychological Association (APA)
Jasim N.& al-Arrayid, Shaykhah Salim& al-Mukharaq, Husayn& Merghoub T.& Krishnamoorthy, R.. 2000. Spectrum of β-thalassaemia mutations in Bahrain. Bahrain Medical Bulletin،Vol. 22, no. 1, pp.1-8.
https://search.emarefa.net/detail/BIM-602156
Modern Language Association (MLA)
Jasim N.…[et al.]. Spectrum of β-thalassaemia mutations in Bahrain. Bahrain Medical Bulletin Vol. 22, no. 1 (Mar. 2000), pp.1-8.
https://search.emarefa.net/detail/BIM-602156
American Medical Association (AMA)
Jasim N.& al-Arrayid, Shaykhah Salim& al-Mukharaq, Husayn& Merghoub T.& Krishnamoorthy, R.. Spectrum of β-thalassaemia mutations in Bahrain. Bahrain Medical Bulletin. 2000. Vol. 22, no. 1, pp.1-8.
https://search.emarefa.net/detail/BIM-602156
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references : p. 7-8
Record ID
BIM-602156