PREVALENCE AND MOLECULAR CHARACTERIZATION OF GLUCOSE-6-PHOSPHATE DEHYDROGENASE DEFICIENCY AMONG ASYMPTOMATIC PALESTINIANS IN THE NOTHERN DISTRICT OF THE WEST BANK
| dc.contributor.author | Ghadeer Ayed Husien | |
| dc.date.accessioned | 2024-08-21T07:23:30Z | |
| dc.date.available | 2024-08-21T07:23:30Z | |
| dc.date.issued | 2023-10-09 | |
| dc.description.abstract | Abstract Red blood cells are highly dependent on the cytoplasmic enzyme glucose-6-phosphate dehydrogenase (G6PD) to protect them from harmful oxidative damage. Mutations in the G6PD gene cause the X-linked recessive condition known as G6PD deficiency. With an estimated 400 million victims worldwide, this deficiency is the most widespread enzyme deficiency in the world. G6PD deficiency is an important issue for the public's health, particularly in developing countries. In the West Bank of Palestine, no investigations have been conducted regarding the occurrence of G6PD deficiency in asymptomatic individuals, nor have the common mutations of the G6PD gene been studied. Evaluating the prevalence of G6PD deficiency among randomly chosen healthy blood bank donors in the West Bank is the major purpose of this study. This will be achieved by employing the Methemoglobin reduction test to identify cases of G6PD deficiency and subsequently examining enzyme activity. The study will also delve into the molecular basis of G6PD deficiency and characterize the specific deficient variants found among the affected donors. From September 2020 to January 2021, a cross-sectional study was undertaken, encompassing a span of five months. The study involved 1380 healthy blood donors from three governmental hospitals located in the West Bank (specifically, Tulkarm, Nablus, and Jenin). Out of the 1380 donors, atotal of 32 were identified as having G6PD deficiency. Consequently, the prevalence of G6PD deficiency in the sampled population was determined to be 2.3%. The molecular analysis of G6PD deficient samples revealed the presence of three variants: c.563 C>T, c.376 A> G, and c.202 G>A. Among these variants, the Mediterranean variant (c.563 C>T) was the most prevalent, accounting for 53.1% of the cases. Following this, the A- variant (c.376 A>G) and the Asahi variant (c.202 G>A) were observed with frequencies of 21.9% and 9.4% respectively. Notably, all samples with the Mediterranean variant exhibited enzyme activity levels below 10%, which aligns with its classification as class ΙΙ. On the other hand, samples with the A- and Asahi variants displayed enzyme activity ranging from 10% to 60%, consistent with their classification as class ΙΙΙ. In summary, this study successfully ascertained both the prevalence and molecular diversity of G6PD deficiency among asymptomatic Palestinians residing in the West Bank. The Mediterranean variant was found to be the most common, with a prevalence rate of 2.3%, followed by the A- variant and the Asahi variant. Keywords: G6PD Deficiency; G6PD Variants; Methemoglobin Reduction Test. | |
| dc.identifier.uri | https://hdl.handle.net/20.500.11888/19392 | |
| dc.language.iso | en | |
| dc.supervisor | Dr. Awni Abu-Hijleh Dr. Fekri Samarah | |
| dc.title | PREVALENCE AND MOLECULAR CHARACTERIZATION OF GLUCOSE-6-PHOSPHATE DEHYDROGENASE DEFICIENCY AMONG ASYMPTOMATIC PALESTINIANS IN THE NOTHERN DISTRICT OF THE WEST BANK | |
| dc.type | Thesis |