Hematological Effects of the Co-Inheritance of Glucose-6-Phosphate Dehydrogenase Deficiency and Sickle Cell Disease.

Abstract

Background: Glucose-6-phosphate dehydrogenase deficiency (G6PDD) and sickle cell disease (SCD) both result in hemolysis associated with anemia. Studies on the hematological effects of SCD and G6PDD co-inheritance are limited, with conflicting results. The objective of the study was to compare the hematological parameters and biochemical markers of hemolysis viz., lactate dehydrogenase (LDH) and unconjugated bilirubin (UBR), in patients with SCD to patients with SCD/G6PDD co-inheritance.

Methods: A total of 214 patients with SCD including both homozygous (HbSS) and heterozygous (HbAS) variants, with or without concomitant G6PDD were identified over a 14-year period at Charlotte Maxeke Johannesburg Academic Hospital (CMJAH) in South Africa. SCD was diagnosed with high-performance liquid chromatography (HPLC), while G6PD status was determined with G6PD spot testing. The full blood count (FBC) parameters, along with the UBR and LDH levels, were recorded.

Results: The median ages at diagnosis were 4.5 and 20 years for HBSS (with and without G6PDD) and HBAS (with and without G6PDD), respectively. The FBC parameters viz., red blood cell count (RCC), hematocrit (Hct), mean cell hemoglobin (MCH), mean cell hemoglobin concentration (MCHC) and mean cell volume (MCV), as well as UBR levels, showed no significant differences between patients with HbSS alone and those with HbSS/ G6PDD. However, patients with HbAS/G6PDD had significantly higher mean UBR levels (p < 0.05) in comparison to those with HbAS alone, although the FBC parameters showed no statistically significant differences between these groups.

Conclusions: Co-inheritance of G6PDD with HbAS does not result in anemia, but elevated biochemical markers of hemolysis suggest ongoing hemolysis. This raises concern about potential complications associated with chronic hemolysis, beyond anemia.