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
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Online Access:http://eprints.usm.my/40770/1/Dr._Nurul_Ain_Fathma_Abdullah-24_pages.pdf
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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