A New Glucose-6-phosphate Dehydrogenase Deficiency Variant, G6PD Mizushima, Showing Increases in Serum Ferritin and Cytosol Leucine Aminopeptidase Levels

Abstract

We made a diagnosis of glucose-6-phosphate dehydrogenase (G6PD) deficiency with a new mutation of 848A→G (exon 8) in a 16-year-old male patient presenting with severe hemolysis. He was administered a diclofenac sodium suppository (50 mg) at the time of first visit to our hospital because of pyrexia. In the acute phase, pyrexia, severe general fatigue, lumbar back pain, hemoglobinuria, and jaundice developed. Laboratory blood examinations showed hemolysis, and remarkable increases in serum ferritin and cytosol leucine aminopeptidase levels. Serum interleukin-6 and interferon-γ levels were also increased. No liver injury was found. He had neonatal jaundice persisting over 3 weeks. He did not have a history of chronic hemolysis or hyperbilirubinemia. Increases in serum ferritin or cytosol leucine aminopeptidase levels in G6PD-deficient patients were not reported earlier. In this case, it is presumed that infection and administration of anti-inflammatory agents induce the hemolytic episode and that hypercytokinemia deteriorates the disease condition.

Genome-wide admixture and association study of serum iron, ferritin, transferrin saturation and total iron binding capacity in African Americans

“…G6PD deficiency may cause acute hemolysis or severe chronic non-spherocytic hemolytic anemia. Increases in serum ferritin levels have been observed in G6PD-deficient patients (20,21), which is possibly due to both a shortened life span and increased break down of erythrocytes in G6PD-deficient patients. A functional missense variant in G6PD, rs1050828 (MAF ¼ 0.13, leading to a Val68Met amino acid substitution), was also associated with ferritin but narrowly missed genome-wide significance (P ¼ 9.1 × 10 28 ).…”