The coexistence of Hepatitis E infection in
G6PD patients can result in severe haemolysis, renal failure, anaemia, jaundice and other complications such as fulminant hepatitis and acute liver failure.
Laboratory testing Results Complete blood count Hb: 53 g/L, Hct: 17.6%, Reticulocyte count: 2.0%, WBC: 33,800/[mm.sup.3], platelets: 157,000/[mm.sup.3] Blood gases pH: 7.00, pCO2: 25 mmHg, pO2: 71 mmHg, base excess: -23.1 mmol/L, HCO3-: 6.2 mmol/L Anionic gap 20.8 mmol/L Lactic acid 2.2 mmol/L Blood ammonia 106.0 mmol/L Total/direct bilirubin 438.5/71.7 [micro]mol/L Blood Glutamic acid 790.37 (100-400) [micro]M Urine 5-oxoproline 8723.54 (0-7.6) mmol/mol Cr Appearance of erythrocytes on Normal peripheral smear Coomb's test Negative
G6PD activity 3.80 (2.80-7.30) U x [gHb.sup.-1] x [min.sup.-1] Pyruvate kinase activity 37.8 (15.2-53.3) U x [gHb.sup.-1] x [min.sup.-1] Hb: hemoglobin; Hct: hematocrit; WBC: white blood cells.
Phenazopyridine should be used with caution especially for an infant younger than 1 month or with
G6PD deficiency because of the risk for methemoglobinemia, sulfhemoglobinemia, and hemolytic anemia.
G6PD abnormality was found in 11 (12%) of the neonates with jaundice and ABO blood group incompatibility was present in 18%.
Given the possibility that the hemolytic crisis had been triggered by a deficiency of
G6PD, a measure of the activity of this enzyme was obtained, resulting in a value of 13.6 U/g Hb (normal > 6.7 U/g Hb).
There is currently a gap in point of care testing devices for
G6PD, a deficiency that leads to hyperbilirubinemia and approximately 21% of kernicterus cases.
The other diseases covered by the tests are celiac disease, alpha-1 antitrypsin deficiency, early onset primary dystonia, Factor XI deficiency, Gaucher disease type 1, glucose-6-Phosphate Dehydrogenase deficiency (also known as
G6PD), hereditary hemochromatosis, and hereditary thrombophilia.
A
G6PD screen was performed during his stay, and this was negative for deficiency.
Fecal occult blood test was negative and upper-GI bleed was not suspected leading to a glucose-6-phosphate dehydrogenase (
G6PD) assay that confirmed very low activity of the enzyme.
G6PD, and the pentose phosphate pathway (PPP) for which it serves as gate keeper, represents a principal generator of the NADPH needed for both biomass production and protection from Reactive Oxygen Species (ROS).
DDS causes common adverse effects like hemolytic anemia in
G6PD deficient patients, methemoglobinemia, agranulocytosis, hepatitis, peripheral neuropathy, insomnia and psychosis.
The most common genetic blood disorder in the Omani society is the
G6PD deficiency as 28% of males and 12% of females have the gene of the disease.
