heterozygous \u03b2 chain mild anemia sx Dx RBC panel MCV 80 RDW confirm w Hb

Heterozygous β chain mild anemia sx dx rbc panel mcv

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: heterozygous ∆β -chain mild anemia sx Dx RBC panel (MCV <80, RDW); confirm w/ Hb electrophoresis Tx reassurance β -thal major : homozygous ∆β -chain severe anemia sx Dx RBC panel (MCV <80, RDW); confirm w/ Hb electrophoresis ( HbF) Tx frequent transfusions α -thalassemia Silent carrier : 1-2 α -chain deletion asx --- HbH disease : 3 α -chain deletion severe anemia sx Dx RBC panel (MCV <80, RDW); confirm w/ Hb electrophoresis ( HbH) Tx frequent transfusions Barts disease : 1- 2 α -chain deletion fetal hydrops Dx post-mortem autopsy Sideroblastic anemia biochemical abnormalities iron gets stuck in mitochondria can’t make Hb anemia sx Dx blood smear (ringed sideroblasts) Tx underlying cause, vit B6 supplements Etiology : lead poisoning, vit B6 deficiency, INH or EtOH use Aplastic anemia bone marrow failure pancytopenia (anemia, neutro- penia, thrombocytopenia) anemia sx + infx + petechiae Dx CBC ( RBC, WBC, plt); confirm w/ bone marrow bx Tx transfusions, bone marrow txp Fanconi anemia : aplastic anemia + short stature, hypopigmented areas, eye/ear deformities Folate deficiency folate methionine (RBC) anemia sx, glossitis Dx RBC panel (MCV >100), hypersegmented neutrophils, folate Tx underlying cause, folate supplements Folate source : leafy vegetables Etiology : “tea and toast” diet, alcoholics, phenytoin or MTX use Vit B12 deficiency vit B12 methionine (RBC) + impaired FA synthesis (myelin) anemia sx, glossitis, peripheral neuropathy Dx RBC panel (MCV >100), hypersegmented neutrophils, vit B12; DDx w/ Schilling test Tx underlying cause, vit B12 injections Vit B12 source : meats Etiology : pernicious anemia (lack of IF), s/p gastrectomy, strict vegans, terminal ileal dz (Crohn), D. latum fish tapeworm
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M EDICINE × H EM /O NC H EMOLYTIC ANEMIA Intravascular hemolysis : ABO-mismatched blood hemolysis within blood stream immediate fever/chills, nausea, vomiting, chest and flank pain, dyspnea risk of hypovolemic shock, DIC, renal failure Extravascular hemolysis : minor antigen-mismatched blood (e.g. Kell) delayed hemolysis within spleen mild fever, jaundice, anemia Dz Presentation Management Other Sickle cell disease AR ∆ HbE6V -chain) sickling of RBCs w/ O 2 conditions small vessel occlusion extra- vascular hemolysis, painful vasoocclusive crises, autosplenic infarction Dx blood smear (sickled RBCs), confirm w/ Hb electrophoresis Tx avoid crises + hydroxyurea ( HbF) + early SHiN vaccination Sickle cell trait : painless hematuria in young black male Splenic sequestration crisis : sudden, rapid pooling of blood into spleen splenomegaly, hypovolemic shock, death Hereditary spherocytosis AR ∆ spectrin spherical RBCs get stuck in spleen extravascular hemolysis Dx osmotic fragility test Tx splenectomy Aplastic crisis : spherocytosis + parvovirus B19 infx, prevent w/ folic acid supplements G6PD deficiency XR ∆ G6PD glutathione for
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