Human Immunodeficiency virus (HIV) is a chronic viral infection and a serious public health concern. Currently, approximately 37.9 million people are living with HIV worldwide [1]. In Ghana, 330 000 people are living with HIV [2].
HIV infection is associated with persistent inflammation and immune activation leading to production of reactive oxygen molecules and oxidative stress [3, 4]. Additionally, HIV positive individuals are predisposed to a plethora of other infections which may result in oxidative stress. The sequelae of these oxidative stress are particularly alarming and life-threatening in people comorbid with Glucose 6 Phosphate Dehydrogenase (G6PD) deficiency. The prevalence rate of G6PD deficiency is 5–25% in tropical Africa and Asia [5–7]. In Ghana, the prevalence of G6PD deficiency is 15–26% [8, 9].
Over 400 G6PD variants have been identified [10] and the polymorphisms are predominantly defined to specific geographic locations [11]. About 186 of these variants are associated with G6PD deficiency due to decreasing enzyme activity or stability [5, 12, 13]. In sub-Saharan Africa, the predominant G6PD variants are B, A, and A-, with frequencies greater than 1% [14]. The G6PD B variant possesses the 376A cDNA sequence and has been shown to have normal enzyme activity. Likewise, the G6PD A variant, which carries a cDNA mutation A376G, has about 85% of the normal enzyme activity. On the contrary, the G6PD A- variants carry the G6PD A backbone with an added single nucleotide mutation. The most common G6PD A- variant possesses the A376G/G202A mutation and has been reported to have 10% of normal enzyme activity in their red blood cells (RBC), although their white blood cells (WBC) maintain 100% normal enzyme activity [15]. Other A- variants peculiar to sub-Saharan Africa are the A376G/T968C, A376G/G680T, and A376G/A543T [16].
In some conditions such as malaria, before primaquine administration, G6PD deficiency is screened for. However, the advantage of screening HIV positive patients for G6PD deficiency is often overlooked despite reports indicating worse clinical outcomes in people comorbid with HIV and G6PD deficiency [17–19]. Importantly, HIV and G6PD deficiency have individually being linked with deranged hematological profile. HIV affects all hematological cell lines, as evidenced by anaemia, neutropaenia, lymphopaenia, and thrombocytopaenia [20–23] whereas G6PD deficiency is associated with attenuated levels of haemoglobin (Hb), haematocrit (HCT), mean cell volume (MCV), and mean cell haemoglobin (MCH) [24]. Notwithstanding, studies on G6PD deficiency in HIV patients is limited in Africa, where both conditions are prevalent and none has been conducted in Ghana.
This study, thus, aimed at evaluating the prevalence of G6PD deficiency, the 376A → G, 202G → A single nucleotide polymorphisms (SNPs) among HIV patients attending care at a teaching hospital in Ghana and determine if the SNPs are associated with deranged hematological profile.