Anemia - Pathophysiology I - Lecture 2 (1)

Glucose 6 phosphate dehydrogenase g6pd deficiency

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Glucose-6-Phosphate Dehydrogenase (G6PD) Deficiency Sulfonamides Sulfamethoxazole (Bactrim®) Sulfacetamide Sulfanilamide Dapsone Nitrofurantoin (Macrobid®) Aspirin Phenazopyridine (AZO®) Rasburicase DRUGS TO AVOID …..
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(G6PD) Deficiency Acute hemolysis Onset: 24 – 72 hours after the trigger Duration: 4 – 7 days Symptoms: Hypotension / palpitations Abdominal pain (enlarged spleen) Jaundice Dark urine
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Systemic complications Liver dysfunction Elevated liver function tests (LFTs) Lactate Dehydrogenase (LDH) Secondary to LDH release from destroyed RBCs Hyperbilirubinemia Secondary to destruction of RBCs
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TREATMENT GOALS – Hemolytic anemia Goals of therapy Manage the underlying cause of the anemia Avoidance of precipitating medications and chemicals Steroids and immunosuppressants have been used to manage autoimmune hemolytic anemias
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Anemia – Part II Blood Loss / critical illness Hemolytic anemia / G6PD deficiency Sickle cell anemia
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SICKLE CELL ANEMIA Epidemiology Have the disease: ~ 1 in 400 African Americans Carry the trait: ~8% of African Americans Etiology Autosomal recessive inheritance Point mutation in the β-chain of Hgb Glutamic acid → Valine
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SICKLE CELL ANEMIA Genetic Influence Sickle cell genes are inherited A person inherits two copies of the hemoglobin gene - one from each parent. A normal gene will make normal hemoglobin (A). An abnormal gene will make abnormal hemoglobin (S).
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SICKLE CELL ANEMIA Pathophysiology Impaired circulation, destruction of RBCs and stasis of blood flow “Sickling” occurs when RBCs are deoxygenated changes in RBC shape and form “Sickled” RBC survive for 10 – 20 days
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SICKLE CELL ANEMIA Risk factors for “Sickling” Cold temperatures Infection / fever Dehydration Hypoxia Acidosis Physical exertion
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SICKLE CELL ANEMIA Clinical presentation Vessel occlusion Pain “Sickle cell crises” or “Painful crises” Chest/lungs (Lung infarcts) Abdomen (Infarction in abdominal structures) Bones/joints Organ failure Liver and spleen (Destruction of RBCs) Heart Kidneys Retina
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SICKLE CELL ANEMIA Complications
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