Thalassemia Sheet_teaching aid

Thalassemia Sheet_teaching aid - Suspect Thalassemia?...

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NB: If coexistent iron, folate, or B12 deficiency, amount of Hb A 2 may be altered, so rule out or correct deficiency before making diagnosis. Suspect Thalassemia? Ethnicity (Mediterranean, African, Mid East, SE Asian, Indian/Pakistani) Microcytosis, hypochromia, anemia Target Cells, Basophilic Stippling Splenomegaly, skeletal changes Gallstones, folate deficiency, failure to thrive Asymptomatic with normal blood ? Asymptomatic with mild microcytic (MCV 50-70) anemia (Hb 9-11)? DDx = iron deficiency Mild to moderate symptoms , splenomegaly, moderate microcytic anemia (Hb 7-10)? Usually don’t need transfusion, but some need intermittent transfusion Most have splenomegaly Most have skeletal deformities Hb H ≤ β Thal in severity, but variable Severe symptoms , severe microcytic anemia (Hgb 3-6)? Skeletal deformities Massive hepatosplenomegaly Growth retardation Gallstones Transfusion dependent Early death w/o Tx Silent Carrier ( α only) αα / α - Diagnosis = Genetic testing (Southern blot, PCR) β very rare Thalassemia intermedia Hb H disease: α -/-- Diagnosis = Hb H 5-40% β Thal: β +/ β + Diagnosis = Hb F +/- Hb A2 β Thal-Hb E : β + / β E Diagnosis = Hb F and Hb E α / β Thal: α -/ α - β / β 0 or β / β + Diagnosis = Genetic and family screening Thalassemia minor α Thal trait: αα /-- α -/ α - Diagnosis = rule out β thal and iron deficiency, family studies β Thal trait: β / β 0 β / β + Diagnosis = Hb A 2 Thalassemia major (Cooley’s anemia, β only) β Thal: β 0 / β 0 β 0 / β + Diagnosis = Predominantly Hb F +/- Hb A2, little or no Hb A β Thal-Hb E: β 0 / β E Diagnosis = Hb F and Hb E No Hb A
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Thalassemia (from Greek = “the sea in the blood,” referring to those who live around the Mediterranean basin) Key elements of pathophysiology: Unbalanced production of globin chains Reduced/inadequate production of hemoglobin Hypochromia, Microcytosis Globin chains that are in “excess” (unable to pair with normal partners) form tetramers that are insoluble damage to red cells (membrane) Ineffective Erythropoiesis and Hemolytic Anemia Together, these processes lead to impaired oxygen delivery, which is complicated by the effects of markedly increased erythropoiesis
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Thalassemia Sheet_teaching aid - Suspect Thalassemia?...

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