Which test findings indicate glucose-6-phosphate dehydrogenase (G6PD) deficiency?

Updated: Feb 19, 2019
  • Author: Srikanth Nagalla, MBBS, MS, FACP; Chief Editor: Emmanuel C Besa, MD  more...
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Answer

Increased reticulocyte counts indicate increased bone marrow response to anemia. Increased indirect bilirubin and LDH levels indicate increased RBC destruction.

Decreased haptoglobin levels, hematuria, and presence of urinary hemosiderin indicate severe intravascular hemolysis. On the peripheral smear, routine staining may reveal polychromasia, representing increased RBC production. So-called bite cells caused by the splenic removal of denatured hemoglobin may be seen.

Heinz bodies (denatured hemoglobin) can be seen on the peripheral smear in G6PD deficiency. See the image below. Heinz bodies are not revealed by routine staining but are visualized by using a supravital stain (Heinz body prep). Heinz bodies are also seen in patients with unstable forms of hemoglobin, such as hemoglobin Köln. Heat stability and/or heat denaturation and high-performance liquid chromatography can be used to identify unstable hemoglobin and thereby rule out G6PD deficiency.

Heinz bodies in a peripheral smear stained with a Heinz bodies in a peripheral smear stained with a supravital stain. Heinz bodies are denatured hemoglobin. Denatured hemoglobin occurs in G6PD deficiencies and in unstable hemoglobin disorders.

Abdominal ultrasound may be useful in assessing for splenomegaly and gallstones. These complications are typically limited to patients with severe chronic hemolysis.


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