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Heme/Onc SVL

FA Heme Onc Chapter

Iron Deficiency Anemia Reduced iron due to chronic bleeding, malnutrition or absorption disorders, or increased demand. Leads to reduced heme synthesis. May manifest as Plummer Vinson Syndrome
Plummer Vinson Syndrome Esophageal webs, glossitis, Fe Deficiency anemia
Alpha Thalassemia alpha globin gene mutations leads to reduced alpha globin synthesis. Deletion of four genes is incompatible with life, Hb Barts and hydrops fetalis. Deletion of three genes, HbH. Deletion of 1-2 genes does not lead to anemia.
Beta Thalassemia Minor B thal minor: underproduced beta chain. Usually asymptomatic. Increased HbA2 (greater than 3.5%)
Beta Thalassemia Major Cooleys Anemia. Beta chain is absent, blood transfusion is required (secondary hemochromatosis). Crew cut skull, marrow expansion, chipmunk facies, increase HbF
Lead Poisoning Inhibits ferrochelatase and ALA Dehydratase. Reduced heme synthesis. Basophilc stippling due to reduced RNA degradation.
Sideroblastic Anemia Hereditary: X linked defect in ALA synthase gene. Reversible etiology: alcohol, lead. Increased iron, normal TIBC, increased ferritin. See ringed sideroblasts
Treatment of Sideroblastic Anemia B6
Folate Deficiency Megaloblastic anemia, hypersegmented neutrophils, glossitis, reduced folate, increased homocysteine, normal MMA. Caused by malnutrition, malabsorption, phenytoin, methotrexate, TMP, pregnancy, hemolytic anemia, giardia, celiac sprue.
B12 Def Pernicious anemia,
Created by: svl2002