Molecular basis of alpha thalassemia among aborigines in Kelantan

Alpha thalassemia is a common inherited disorder of hemoglobin (Hb) synthesis throughout all tropical and subtropical regions of the world. It is normally results from deletion of one or both alpha genes at chromosomes 16pl 3.3. Carriers of these genes have a variable degree of anemia (low Hb), de...

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Main Author: Rusli, Nurul Atikah
Format: Monograph
Language:English
Published: Universiti Sains Malaysia 2016
Subjects:
Online Access:http://eprints.usm.my/62372/
http://eprints.usm.my/62372/1/NURUL%20ATIKAH%20BINTI%20RUSLI%20-%20e.pdf
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author Rusli, Nurul Atikah
author_facet Rusli, Nurul Atikah
author_sort Rusli, Nurul Atikah
building USM Institutional Repository
collection Online Access
description Alpha thalassemia is a common inherited disorder of hemoglobin (Hb) synthesis throughout all tropical and subtropical regions of the world. It is normally results from deletion of one or both alpha genes at chromosomes 16pl 3.3. Carriers of these genes have a variable degree of anemia (low Hb), decreased mean corpuscular hemoglobin (MCH/pg), decreased mean corpuscular volume (MCV/fl) and a normal or slightly decreased level of HbA2. Nevertheless, molecular analysis is essential to support these hematological observations. Thus, we presented a cross-sectional study to screen for the deletional defects in the a-globin gene cluster among aborigines population in Gua Musang, Kelantan. Deletion of alpha genes was identified by single-tube multiplex-Polymerase Chain Reaction (PCR) method and 1% agarose gel electrophoresis. Deletion mutations include single gene deletions -a3.7 and -a4.2, double gene deletions —SEA and —THAI in 52 blood samples from studied respondents. The results revealed two out of 52 respondents had alpha gene deletion, one respondent with (1.9%) single gene deletion of-a3.7 and one respondent with (1.9%) double deletion of —SEA. In conclusion, this study will helps in determining the alpha thalassemia status among aborigines for their future health planning and management.
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spelling usm-623722025-07-21T03:51:13Z http://eprints.usm.my/62372/ Molecular basis of alpha thalassemia among aborigines in Kelantan Rusli, Nurul Atikah R Medicine (General) RC Internal medicine Alpha thalassemia is a common inherited disorder of hemoglobin (Hb) synthesis throughout all tropical and subtropical regions of the world. It is normally results from deletion of one or both alpha genes at chromosomes 16pl 3.3. Carriers of these genes have a variable degree of anemia (low Hb), decreased mean corpuscular hemoglobin (MCH/pg), decreased mean corpuscular volume (MCV/fl) and a normal or slightly decreased level of HbA2. Nevertheless, molecular analysis is essential to support these hematological observations. Thus, we presented a cross-sectional study to screen for the deletional defects in the a-globin gene cluster among aborigines population in Gua Musang, Kelantan. Deletion of alpha genes was identified by single-tube multiplex-Polymerase Chain Reaction (PCR) method and 1% agarose gel electrophoresis. Deletion mutations include single gene deletions -a3.7 and -a4.2, double gene deletions —SEA and —THAI in 52 blood samples from studied respondents. The results revealed two out of 52 respondents had alpha gene deletion, one respondent with (1.9%) single gene deletion of-a3.7 and one respondent with (1.9%) double deletion of —SEA. In conclusion, this study will helps in determining the alpha thalassemia status among aborigines for their future health planning and management. Universiti Sains Malaysia 2016 Monograph NonPeerReviewed application/pdf en http://eprints.usm.my/62372/1/NURUL%20ATIKAH%20BINTI%20RUSLI%20-%20e.pdf Rusli, Nurul Atikah (2016) Molecular basis of alpha thalassemia among aborigines in Kelantan. Project Report. Universiti Sains Malaysia. (Submitted)
spellingShingle R Medicine (General)
RC Internal medicine
Rusli, Nurul Atikah
Molecular basis of alpha thalassemia among aborigines in Kelantan
title Molecular basis of alpha thalassemia among aborigines in Kelantan
title_full Molecular basis of alpha thalassemia among aborigines in Kelantan
title_fullStr Molecular basis of alpha thalassemia among aborigines in Kelantan
title_full_unstemmed Molecular basis of alpha thalassemia among aborigines in Kelantan
title_short Molecular basis of alpha thalassemia among aborigines in Kelantan
title_sort molecular basis of alpha thalassemia among aborigines in kelantan
topic R Medicine (General)
RC Internal medicine
url http://eprints.usm.my/62372/
http://eprints.usm.my/62372/1/NURUL%20ATIKAH%20BINTI%20RUSLI%20-%20e.pdf