Molecular Characterization of Glucose-6-Phosphate Dehydrogenase: Do Single Nucleotide Polymorphisms Affect Hematological Parameters in HIV-Positive Patients?

Kwabena Owusu Danquah; Kofi Mensah; Charles Nkansah; Samuel Kwasi Appiah; Mark Noagbe; Yasmine Hardy; David O Ntiamoah; Lillian Antwi Boateng; Max Efui Annani-Akollor; Eddie-Williams Owiredu; Alexander Yaw Debrah; Otchere Addai-Mensah

doi:10.1155/2020/5194287

Molecular Characterization of Glucose-6-Phosphate Dehydrogenase: Do Single Nucleotide Polymorphisms Affect Hematological Parameters in HIV-Positive Patients?

J Trop Med. 2020 Aug 1:2020:5194287. doi: 10.1155/2020/5194287. eCollection 2020.

Affiliations

¹ Department of Medical Diagnostics, Faculty of Allied Health Sciences, Kwame Nkrumah University of Science and Technology, Kumasi, Ghana.
² Department of Haematology, Komfo Anokye Teaching Hospital, Kumasi, Ghana.
³ HIV Clinic, Komfo Anokye Teaching Hospital, Kumasi, Ghana.
⁴ Department of Basic and Applied Biology, University of Energy and Natural Resource, Sunyani, Ghana.
⁵ Department of Molecular Medicine, School of Medicine and Dentistry, Kwame Nkrumah University of Science and Technology, Kumasi, Ghana.

Abstract

This descriptive, cross-sectional study aimed at evaluating the prevalence of G6PD deficiency and the 376A ⟶ G, 202G ⟶ A single nucleotide polymorphisms (SNPs) among HIV patients attending care at a teaching hospital in Ghana and determine how the SNPs affect haematological profile in HIV. A total of 200 HIV-positive Ghanaians were recruited. Venous blood samples were obtained and complete blood count, and G6PD screening and genotyping for the 376A ⟶ G, 202G ⟶ A SNPs were performed. Out of the 200 participants, 13.0% (26/200) were G6PD-deficient based on the methemoglobin reductase technique, with 1.5% (3/200) and 11.5% (23/200) presenting with partial and full enzyme defect, respectively. Among the 13.0% participants with G6PD deficiency, 19.2% (5/26), 30.8% (8/26), and 19.2% (5/26) presented with 376A ⟶ G only (enzyme activity (EA): 1.19 U/g Hb), 202G ⟶A only (EA: 1.41 U/g Hb), and G202/A376 SNPs (EA: 1.14 U/g Hb), respectively. Having the 376A ⟶ G mutation was associated not only with lower red blood cell (RBC) count (3.38 × 10⁶/µL (3.16-3.46) vs 3.95 × 10⁶/µL (3.53-4.41), p = 0.010) but also with higher mean cell volume (MCV) (102.90 (99.40-113.0) vs 91.10 fL (84.65-98.98), p = 0.041) and mean cell haemoglobin (MCH) (33.70 pg (32.70-38.50) vs 30.75 pg (28.50-33.35), p = 0.038), whereas possessing the 202G ⟶ A mutation was associated with higher MCV only (98.90 fL (90.95-102.35) vs 91.10 fL (84.65-98.98), p = 0.041) compared to G6PD nondeficient participants. The prevalence of G6PD deficiency among HIV patients in Kumasi, Ghana, is 13.0% prevalence, comprising 1.5% and 11.5% partial and full enzyme defect, respectively, based on the methemoglobin reductase technique among HIV patients in Ghana. Among G6PD-deficient HIV patients, the prevalence of G202/A376 SNPs is 19.2%. The 376A ⟶ G mutation is associated not only with lower RBC count but also with higher MCV and MCH, whereas the 202G ⟶ A mutation is associated with higher MCV compared to the normal G6PD population.