Rozitah, Razman
(2008)
Molecular study of transfusion
dependent thalassemia patients who
attended pediatric day care Hospital
Universiti Sains Malaysia, Kelantan
from January 2006 to April 2006.
Masters thesis, Universiti Sains Malaysia.
Abstract
Thalassemia has emerged as one of the most common public health
problems in Malaysia, particularly among Malaysian Chinese and Malays. This study
aims to determine the spectrum of Thalassaemia gene mutations found in transfusion
dependent Thalassaemia patients who attended Pediatric Daycare Unit, Hospital
Universiti Sains Malaysia, Kelantan, Malaysia. The findings are important for
establishing the prenatal diagnosis in our Human Genome Centre.This is a cross sectional study in which 38 transfusion dependent Beta
Thalassaemia patients were screened for six different mutations previously shown to be
prevalent in the Malaysian population. Sampel collection was started in January, 2006 till
April, 2006. DNA was extracted from leucocytes collected from the peripheral vein,
amplified by PCR and digested by six restriction enzymes for detection of mutations.
The mutation were correlated with the clinical severity based on the following clinical
parameters : age at presentation, pre-transfusion hemoglobin level, mean volume of blood
transfusion per kilo body weight per year, spleen size, spleenectomy and growth failure
were recorded in these patients to determine the severity of each group of thalassaemia
type depicted by the mutation. For the statistical analysis, Kruskal-Wallis test and
univariate analysis were used.
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