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

Fathma Abdullah, Nurul Ain (2015) Detection on common deletional alpha thalassaemia in pregnant women by polymerase chain reaction techniques. Masters thesis, Universiti Sains Malaysia.

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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.

Item Type: Thesis (Masters)
Uncontrolled Keywords: Thalassemia
Subjects: R Medicine > RC Internal medicine
Divisions: Kampus Kesihatan (Health Campus) > Pusat Pengajian Sains Perubatan (School of Medical Sciences) > Thesis
Depositing User: Mr Abdul Hadi Mohammad
Date Deposited: 16 Jul 2018 01:24
Last Modified: 16 Jul 2018 01:24

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