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: | |
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| Format: | Thesis |
| Language: | English |
| Published: |
2015
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| Subjects: | |
| Online Access: | http://eprints.usm.my/40770/1/Dr._Nurul_Ain_Fathma_Abdullah-24_pages.pdf http://eprints.usm.my/40770/ |
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| Institution: | Universiti Sains Malaysia |
| Language: | English |
| Summary: | 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.
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