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Case 3 Benjamin Haro, John Kang, Annelise Lupica.

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1 Case 3 Benjamin Haro, John Kang, Annelise Lupica

2 Case Summary  25-year-old African American male soldier in the process of being deployed to West Africa, took anti-malarial prophylaxis, primaquine, three days before leaving  Within 24 hours of taking the medication, the patient was hospitalized for fever, chills, and general malaise  His physical exam seemed normal, without acute stress, with no significant family history or drug allergies

3 Key Information Pointing to Diagnosis  Decreased Hemoglobin at 9.1 g/dL  Decreased RBC count at 3x10 12 /L Value derived from Hct/RBC=MCV  Bite Cells and spherocytes in peripheral blood  Onset of anemia after administration of primaquine  Blood smear indicating shortened RBC life span, caused by oxidative damage  Positive G6PD deficient spectrophotomertric assay, after the cells had aged

4 The Diagnosis for Case 3  Glucose-6-Phosphate Dehydrogenase Deficiency (G6PD deficiency) Also known as Heinz Body Anemia

5 Pathophysiology of G6PD Deficiency  Acute intravascular hemolysis occurs when exposed to acute oxidative stress, such as certain drugs, fava beans, infection, and birth  In normal cells, G6PD catalyzes the first step in the hexose monophosphate shunt  Glucose-6-phosphate is oxidized to 6-phosphogluconate in a coupled reaction in which NADP is reduced to NADPH  NADPH in turn reduces a glutathione aggregate to a glutathione monomer  Because G6PD deficient patients cannot reduce to glutathione, oxidative damage precipitates Heinz bodies

6 Pathophysiology of G6PD Deficiency  G6PD activity is highest in young RBCs and decreases as the cell ages.  Once the cell starts to age enzyme activity decreases and Heinz bodies attach to the RBC membrane.  Heinz bodies lead to decreased RBC survival time.  Normally the bone marrow is able to compensate for the decreased RBC survival time.  Oxidative drugs (anti-malarial) can cause acute oxidative stress and lead to acute intravascular hemolysis.

7 Diagnostic Tests for G6PD Deficiency  CBC  Peripheral Blood Smear (stained with new Methylene Blue)  Spectrophotometric Assay A measurement of the activity of the G6PD enzyme  Rapid fluorescent spot test (Beutler fluorescent spot test) Detects the generation of NADPH from NADP

8 Therapy and Prognosis for G6PD Deficiency  Avoid or discontinue use of an oxidant drug  Transfusion after a hemolytic episode  The prognosis for patients with G6PD deficiency is good with no complications as long as the use of oxidant drugs is discontinued.

9 Prevention of G6PD Deficiency  Avoiding oxidant drugs and fava beans (if diagnosed with Favism) can avoid the anemic effects of G6PD Deficiency

10 Take Home Message  The diagnosis is Glucose-6-Phosphate Dehydrogenase Deficiency  Typical symptoms are anemia, bite cells, hemoglobinuria, and jaundice  The cause of the disease is deficiency in G6PD, typical of older RBCs  Diagnostic tests include spectrophotometric assay and rapid fluorescent spot test  Treatment is discontinuation of oxidizing drugs, and transfusion  Prognosis is good if oxidant drugs are discontinued  Prevention is avoidance of oxidant drugs and fava beans

11 References  Cappellini, M. D., & Fiorelli, G. (2008). Glucose-6-phosphate dehydrogenase deficiency. Lancet 371(9606), doi: /S (08)  Carter, S. M. (2009). Glucose-6-Phosphate Dehydrogenase Deficiency. Medscape Reference WebMD LLC. Retrieved from overview  G6PD Deficiency. (2010). In g6pddeficiency.org. Retrieved from  Harmening, D.M. (2009). Hemolytic Anemias: Intracorpuscular Defects: II. Hereditary Enzyme Deficiencies. Clinical Hematology and Fundamentals of Hemostasis 5th Edition ( ). Philadelphia, PA: F. A. Davis.  McQueen, N. L. (2011). Hemolytic Anemias Due to Other Intracorpuscular Defects [PowerPoint slides]. Retrieved from

12 Point Spread Case summary5 Key Information pointing to Diagnosis15 Diagnosis5 Pathophysiology of the disease25 Diagnostic tests10 Therapy5 Prognosis5 Prevention5 Take home message5 Are all questions addressed?10 Appearance5 Presentation skills (individual)5 Total100


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