Molecular basis of α-thalassemia in Bahrain
Joint Authors
al-Arrayid, Shaykhah Salim
Jirar N.
al-Muhruq, Husayn
Ducrocoq R.
Nagel R. L.
Jasim N.
al-Ajami, Abd Allah M.
Krishnamoorthy, R.
Source
Issue
Vol. 23, Issue 1 (31 Mar. 2001), pp.1-7, 7 p.
Publisher
King Hamad University Hospital
Publication Date
2001-03-31
Country of Publication
Bahrain
No. of Pages
7
Main Subjects
Abstract EN
Objectives : This study was designed to delineate the molecular lesions, on DNA level, that lead to α-thalassemia in the population of Bahrain.
Methods : Various polymerase chain reaction (PCR)-based methodologies were involved, namely, differential PCR amplification, PCR-restriction fragment length polymorphism (PCR-RFLP), and direct PCR-amplified genomic DNA sequencing.
Results : Five α-thalassemia determinants were identified.
These include three deletional type, the rightward 3.7 kilobase (kb) deletion, the leftward 4.2 kb deletion, and the pentanucleotide deletion in 5' splice donor side of intron I in α2-globin gene (GGTGAGG→ GG-----), and two nondeletional α-thal determinants, the Saudi type polyadenylation (polyA) signal mutation in the α2-globin gene (AATAAA→ AATAAG), and the Turkish type polyA signal mutation (AATAAA→ AATGAA), also in α2-globin gene.
Conclusion : Three α-thalassemia mutations, the Saudi type polyA signal mutation, the pentanucleotide deletion and the rightward 3.7 kb deletion, account for 97 % of all α- thalassemia determinants in Bahrain.
Recommendations : A well-tailored genetic counseling approach, supported by molecular studies, is advised for family members affected with α-thalassemia, and in particular for carriers of the polyA signal mutations.
American Psychological Association (APA)
Jasim N.& al-Arrayid, Shaykhah Salim& Jirar N.& al-Muhruq, Husayn& al-Ajami, Abd Allah M.& Ducrocoq R.…[et al.]. 2001. Molecular basis of α-thalassemia in Bahrain. Bahrain Medical Bulletin،Vol. 23, no. 1, pp.1-7.
https://search.emarefa.net/detail/BIM-601922
Modern Language Association (MLA)
Jasim N.…[et al.]. Molecular basis of α-thalassemia in Bahrain. Bahrain Medical Bulletin Vol. 23, no. 1 (Mar. 2001), pp.1-7.
https://search.emarefa.net/detail/BIM-601922
American Medical Association (AMA)
Jasim N.& al-Arrayid, Shaykhah Salim& Jirar N.& al-Muhruq, Husayn& al-Ajami, Abd Allah M.& Ducrocoq R.…[et al.]. Molecular basis of α-thalassemia in Bahrain. Bahrain Medical Bulletin. 2001. Vol. 23, no. 1, pp.1-7.
https://search.emarefa.net/detail/BIM-601922
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references : p. 6-8
Record ID
BIM-601922