Presentation on theme: "Case Study MICR Hematology Spring, 2011"— Presentation transcript:
1 Case Study MICR 410 - Hematology Spring, 2011 Benjamin Haro, John Kang, Annelise LupicaCase Study MICR Hematology Spring, 2011
2 Case Summary25-year-old African American male soldier in the process of being deployed to West Africa, took anti-malarial prophylaxis, primaquine, three days before leavingWithin 24 hours of taking the medication, the patient was hospitalized for fever, chills, and general malaiseHis 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/dLDecreased RBC count at 3x1012/LValue derived from Hct/RBC=MCVBite Cells and spherocytes in peripheral bloodOnset of anemia after administration of primaquineBlood smear indicating shortened RBC life span, caused by oxidative damagePositive G6PD deficient spectrophotomertric assay, after the cells had aged
4 The Diagnosis for Case 3Glucose-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 birthIn normal cells, G6PD catalyzes the first step in the hexose monophosphate shuntGlucose-6-phosphate is oxidized to 6-phosphogluconate in a coupled reaction in which NADP is reduced to NADPHNADPH in turn reduces a glutathione aggregate to a glutathione monomerBecause 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 CBCPeripheral Blood Smear (stained with new Methylene Blue)Spectrophotometric AssayA measurement of the activity of the G6PD enzymeRapid 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 drugTransfusion after a hemolytic episodeThe 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 MessageThe diagnosis is Glucose-6-Phosphate Dehydrogenase DeficiencyTypical symptoms are anemia, bite cells, hemoglobinuria, and jaundiceThe cause of the disease is deficiency in G6PD, typical of older RBCsDiagnostic tests include spectrophotometric assay and rapid fluorescent spot testTreatment is discontinuation of oxidizing drugs, and transfusionPrognosis is good if oxidant drugs are discontinuedPrevention is avoidance of oxidant drugs and fava beans
11 ReferencesCappellini, 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 fromG6PD Deficiency. (2010). In g6pddeficiency.org. Retrieved fromHarmening, 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 summary 5 Key Information pointing to Diagnosis 15 Pathophysiology of the disease25Diagnostic tests10TherapyPrognosisPreventionTake home messageAre all questions addressed?AppearancePresentation skills (individual)Total100