TITLE:
Glucose-6-Phosphate Dehydrogenase Deficiency: Difficulties in Diagnosis at the Souro Sanou University Hospital, Burkina Faso
AUTHORS:
Salifo Sawadogo, Koumpingnin Nébié, Jerôme Kouldiati, Catherine Traoré, Salam Sawadogo, Aimée S. Kissou, Eléonore Kafando
KEYWORDS:
G6PD Deficiency, G6PD-Deficient Red Cell, Diagnosis Difficulties, Burkina Faso
JOURNAL NAME:
Open Journal of Blood Diseases,
Vol.13 No.1,
February
24,
2023
ABSTRACT: Glucose-6-phosphate dehydrogenase deficiency is the most common
enzymopathy worldwide. The precise prevalence of G6PD is unknown in Burkina
Faso. The objective of the study was to describe the difficulties to diagnose this disease at the Souro Sanou University
hospital (CHUSS) in Bobo-Dioulasso. It involved five patients comprising
one child with homozygous SS sickle cell disease, one adolescent screened
following a family investigation, and three adults including a man and two
women. Blood smear stained with May Grunwald Giemsa was performed to look for
specific signs of G6PD-deficient red blood cell and brilliant cresyl Blue for
Heinz Bodies. A microscope Olympus BX53 equipped with a Camera (XC10) and
connected to a computer was used to read blood smears and capture images. Genes
sequencing by Sanger method were performed in a specialized laboratory in
molecular genetics. For each analysis, the protocol and instructions of the
equipment and reagent manufacturer were applied. Of the five patients, three
had anemia and only one had
hyperreticulocytosis. Two patients had biological signs of hemolysis and one
patient had an elevated CRP. Blood smear stained with MGG and cresyl blue
showed specific signs of G6PD-deficient red blood cells and Heinz bodies in all
patients. Biochemical analysis and molecular typing confirmed G6PD deficiency.
The presence of G6PD-deficient red blood cells in the blood smear guides
the diagnosis of G6PD deficiency. The diagnosis is biochemical and is based on
the combined measurement of G6PD plus pyruvate kinase and/or hexokinase.