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