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Determination of genetic variants associated with G6PD enzyme deficiency in selected Sri Lankan populations

NRC Grant:  14-069

Dr. G.S.A. Gunawardana
Dept. of Parasitology
Faculty of Medicine
Dept. of Parasitology
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Area of Research:Medical Science
Status:Ongoing

 

objectives

 a) To determine the genetic variations associated with G6PD enzyme deficiency status in  selected Sri Lankan populations.

b) To determine the prevalence of point mutations in the G6PD gene of identified G6PD enzyme deficient individuals.

c) To identify any correlations between these mutations and the status of G6PD enzyme deficiency.

d) To study the possible relationship between G6PD gene variants and CKDU .

overview

 Individuals with G6PD deficiency can present with a spectrum of disorders including acute massive haemolysis, neonatal hyperbilirubinaemia, chronic haemolytic anaemia and acute renal failure resulting in major morbidity, or even mortality.  Such conditions will necessitate many days of hospitalization leading to loss of working hours and resulting in economic hardships to the individual, the family, as well as to the nation.  Drugs such as primaquine and dapsone are known to induce haemolysis in susceptible individuals, which may jeopardize the elimination programmes being maintained for malaria and leprosy in the country.  Recent studies have also shown a higher prevalence of G6PD enzyme deficiency among patients with CKDU indicating the possibility of an important role played by G6PD deficiency in the pathogenesis of the disease.  Genetic variants that might be responsible for this enzyme deficiency in Sri Lankan populations have not as yet been documented.  By determining the prevalence of point mutations in the G6PD gene of identified G6PD deficient individuals and detecting any correlations between these mutations and the status of G6PD enzyme deficiency, would help to gauge the impact of G6PD deficiency on haemolysis, justifying the need for screening / educational programmes for susceptible individuals in order to prevent the occurrence of such episodes.  Furthermore, awareness regarding the prevailing G6PD genetic variants at individual or community level would be of importance in reducing the haemolytic risk from use of drugs such as primaquine or dapsone, essential in the treatment of malaria and leprosy respectively.  Additionally, any relationship ascertained between G6PD gene variants and CKDU would be of great importance to the scientific community.