Detection on common deletional alpha thalassaemia in pregnant women by polymerase chain reaction techniques

Thalassaemia is the most common inherited disorder worldwide and represent as a major health problem in many areas and approximately 4.5%- 6% of Malaysians are carrier of this genetic disorder. There are two type of thalassaemia which α and β thalassemia. α-thalassaemia either the deletion of a...

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Main Author:	Fathma Abdullah, Nurul Ain
Format:	Thesis
Language:	English
Published:	2015
Subjects:	RC Internal medicine
Online Access:	http://eprints.usm.my/40770/1/Dr._Nurul_Ain_Fathma_Abdullah-24_pages.pdf
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id	my-usm-ep.40770
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spelling	my-usm-ep.407702018-07-16T01:24:51Z Detection on common deletional alpha thalassaemia in pregnant women by polymerase chain reaction techniques 2015-05 Fathma Abdullah, Nurul Ain RC Internal medicine Thalassaemia is the most common inherited disorder worldwide and represent as a major health problem in many areas and approximately 4.5%- 6% of Malaysians are carrier of this genetic disorder. There are two type of thalassaemia which α and β thalassemia. α-thalassaemia either the deletion of a single or double α-globin gene deletion that is located at position 16p3.3 is the one of the most common genetic disorder in the world. In Malaysia, the incidence is 4.5%. The aims of this study were to identify and characterised the common deletional type cases of α-thalassaemia in Malay pregnant women at HUSM by molecular method. A total of 200 Malay pregnant women who attended for an antenatal check-up at Hospital Universiti Sains Malaysia were screened for α-thalassaemia. DNA was extracted from 200 pregnant women blood using commercial DNA extraction kit prior to PCR amplification. Of these, 16 were excluded as they were diagnosed as β- thalassaemia/Hb E trait. Out of 184 genomic DNA, 17 (9.2%) were possessed α-thalassaemia deletion. The genotype could be identified to - α3.7/αα in 15 (8.1%) and --SEA/αα in 2(1.1%). While -α4.2 kb deletion and --THAI deletion was not detected in our subjects. Thus, the most common deletion in the Malays pregnant women were -α3.7 followed by --SEA. The molecular method has been established to detect these carriers. The presence of two gene deletion evidenced by --SEA. showed the importance to screen α- thalassaemia among Malay pregnant women and subsequent screening patients' spouse to exclude hydrops fetalis. Detection of --SEA α-thalassaemia by PCR techniques is convenient, and suitable to be used as a confirmatory test. 2015-05 Thesis http://eprints.usm.my/40770/ http://eprints.usm.my/40770/1/Dr._Nurul_Ain_Fathma_Abdullah-24_pages.pdf application/pdf en public masters Universiti Sains Malaysia Pusat Pengajian Sains Perubatan
institution	Universiti Sains Malaysia
collection	USM Institutional Repository
language	English
topic	RC Internal medicine
spellingShingle	RC Internal medicine Fathma Abdullah, Nurul Ain Detection on common deletional alpha thalassaemia in pregnant women by polymerase chain reaction techniques
description	Thalassaemia is the most common inherited disorder worldwide and represent as a major health problem in many areas and approximately 4.5%- 6% of Malaysians are carrier of this genetic disorder. There are two type of thalassaemia which α and β thalassemia. α-thalassaemia either the deletion of a single or double α-globin gene deletion that is located at position 16p3.3 is the one of the most common genetic disorder in the world. In Malaysia, the incidence is 4.5%. The aims of this study were to identify and characterised the common deletional type cases of α-thalassaemia in Malay pregnant women at HUSM by molecular method. A total of 200 Malay pregnant women who attended for an antenatal check-up at Hospital Universiti Sains Malaysia were screened for α-thalassaemia. DNA was extracted from 200 pregnant women blood using commercial DNA extraction kit prior to PCR amplification. Of these, 16 were excluded as they were diagnosed as β- thalassaemia/Hb E trait. Out of 184 genomic DNA, 17 (9.2%) were possessed α-thalassaemia deletion. The genotype could be identified to - α3.7/αα in 15 (8.1%) and --SEA/αα in 2(1.1%). While -α4.2 kb deletion and --THAI deletion was not detected in our subjects. Thus, the most common deletion in the Malays pregnant women were -α3.7 followed by --SEA. The molecular method has been established to detect these carriers. The presence of two gene deletion evidenced by --SEA. showed the importance to screen α- thalassaemia among Malay pregnant women and subsequent screening patients' spouse to exclude hydrops fetalis. Detection of --SEA α-thalassaemia by PCR techniques is convenient, and suitable to be used as a confirmatory test.
format	Thesis
qualification_level	Master's degree
author	Fathma Abdullah, Nurul Ain
author_facet	Fathma Abdullah, Nurul Ain
author_sort	Fathma Abdullah, Nurul Ain
title	Detection on common deletional alpha thalassaemia in pregnant women by polymerase chain reaction techniques
title_short	Detection on common deletional alpha thalassaemia in pregnant women by polymerase chain reaction techniques
title_full	Detection on common deletional alpha thalassaemia in pregnant women by polymerase chain reaction techniques
title_fullStr	Detection on common deletional alpha thalassaemia in pregnant women by polymerase chain reaction techniques
title_full_unstemmed	Detection on common deletional alpha thalassaemia in pregnant women by polymerase chain reaction techniques
title_sort	detection on common deletional alpha thalassaemia in pregnant women by polymerase chain reaction techniques
granting_institution	Universiti Sains Malaysia
granting_department	Pusat Pengajian Sains Perubatan
publishDate	2015
url	http://eprints.usm.my/40770/1/Dr._Nurul_Ain_Fathma_Abdullah-24_pages.pdf
_version_	1747820819448332288

Detection on common deletional alpha thalassaemia in pregnant women by polymerase chain reaction techniques

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