Rbc Disorders

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Common cytoskeletal protein defects in Hereditary Spherocytosis

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Band3, Protein 4.2, Spectrin, and Ankyrin

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Most common RBC disorder in Northern Europeans

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Hereditary Spherocytosis

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All but one of the chronic hemolytic disorders have Splenomegaly. Name it.

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Sickle Cell Disease

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Lab findings in Hereditary Spherocytosis

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Elevated MCHC, Elevated LDH, Elevated Bili and a positive Osmotic Fragility Test (Hemolysis seen)

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DDx of spherocytosis

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Immune-mediated Hemolysis and Hereditary Spherocytosis

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Protein defect in Hereditary Elliptocytosis

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Spectrin defect

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Red Cell disorder with tendency of developing Thrmobosis post Splenectomy

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Hereditary Stomatocytosis (Decreased in Stomatin). In suspected patients, should avoid splenectomy.

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DDx of stomatocytosis

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Hereditary Stomatocytosis and Rh-null RBCs

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What are Heinz Bodies

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Hemoglobin precipitated from oxidative damage (e.g. in G6PD-deficient patient)

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Most common disease producing enzymopathy in humans

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G6PD-deficiency (seen in approximately 12% of African Americans)

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Ways to test for G6PD deficiency

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1) Oxidate stress of RBCs with Ascorbate Cyanide, 2) Fluorescent NADPH spot test. Note: Testing shold be done months after the patient's last hemolytic episode

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Most common type of Congenital Dyserythropoetic Anemia (CDA)

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CDA type II: You see multinucleated erythroid precursors (+ HAM test in acidified serum). Note: HAM test is also + in PNH

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Etiology of PNH

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GPI anchor protein defect (PIG-A: Phosphotidyl Inositol Glycan A defect)

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Common flow cytometry findings in PNH

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Decrease expression of : CD55, CD59, AchE, CD16 and CD48

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Low Hb and decreased MCV is more commonly seen in Hereditary Sideroblastic Anemia or Hereditary Hemochromatosis?

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Hereditary Sideroblastic Anemia

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Common causes of Acquired Red Cell Aplasia

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1) Thymoma (Spindled/Medullary type) and 2) B-19 Parvo infection

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Common causes of Congenital Pure Red Cell Aplasia

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Blackfan-Diamond Syndrome (Overexpression of i-Ag on RBCs and Elevated Hb-F)

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Common "Syndromes" causing Aplastic Anemia

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Fanconi Anemia, Dyskeratosis congenita, Schwachman-Diamond Syndrome, Reticular dysgenesis, Down syndrome, Familial Aplastic Anemia

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Genetic defect in Sickle cell disease

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Hemoglobin B-chain-6 (Glu-->Val)

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Common diseases associated with SS disease

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Parvo-B19 Aplastic Anemia, Medullary CA of kidney, Salmonella Typhi infection, S. pneumonia infection, H. influenzae tpe B, M. pneumoniae, and Osteonecrosis

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Expected %Hb-S in Sickle Cell Trait

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35-45%

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Difference in %Hb-S in S-beta Thal vs. S-alpha Thal

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S-alpha Thal: Decreased %Hb-S (25-35%); S-beta Thal: Increased %Hb-S (>50%)

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What complications are common to both SS- disease and SC disease

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Avascular Necrosis of bone and Proliferative Retinopathy

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Molecular defect in Hb-C disease

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Hb-Beta chain 6 (Glu-->Lys)

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Smear findings in Hb-C disease

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Target cells and Rodshaped RBCs or Hexagonal Crystals

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Molecular defect in Hb-E disease

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Hemoglobin Beta chain 26 (Glu-->Lys); Common in South East Asia

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Common Lab findings in all Thalassemias

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Decreased Thal-index :(MCV/RBC#) is <13 and Target cell RBCs

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http://www.indwes.edu/Faculty/bcupp/things/Blood/spherocytes_nw.jpg

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spherocytosis

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Bands that run with S on Cellulose and with A on citrate

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Hb-D (Beta chain defect) & Hb-G (Alpha chain defect)

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Patient of Meditarranean descent with Hb-S <30% and Hb-F ~20%

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Hb-Lepore (delta & Beta gene fusion)

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Bands that run with S on Cellulose and with A on citrate

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Hb-D (Beta chain defect) & Hb-G (Alpha chain defect)

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Patient of Meditarranean descent with Hb-S <30% and Hb-F ~20%

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Hb-Lepore (delta & Beta gene fusion)

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What's Hb-Constant Spring?

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Alpha gene defect (produces alpha Thal)

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What's Hb with Fe+++ (instead of Fe++)?

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Methemoglobin: (Can't bind O2)

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Best way to detect Met-Hemoglobin

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Co-oximeter

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Common causes of aquired Met-Hb

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Nitrites, Quinones, Phenacetin, Sulfonamides

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Tx of Acquired Met-Hb?

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Methylene Blue (Met-Hb ---> Hb)

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Causes of Sulf-Hb

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Sulfonamides and C. perfringens (Sulf-Hb is an irreversibly oxidized Hb)

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Alpha and Beta chain genes of Hb are on which chromosomes?

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Alpha= Chr 16 (usually large deletions) and Beta= Chr 11 (mostly point mutations)

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What's typical Thal index (MCV/#RBC) for Fe-def?

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>15

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Electropheresis and Lab findings in Alpha-Thal trait

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Normal Electropheresis but with a Thal. Index of <13

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Geogphraphy of alpha-Thal vs Beta-Thal

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Alpha-Thal: Africa nd Asia, Beta-Thal: Meditarranean

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Dx of Hb-Electropheresis showing Elevated A2 and Normal Hb-F

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Beta-Thal (note: If Hb-A2 is Normal, you can't assume Alpha-thal until you rule out Fe-def)

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Electropheresis findings of B-Thal major

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Elevated Hb-A2, Very elevated Hb-F (50-95%), and very low Hb-A

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Common causes of secondary AIHI

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CLL/SLL or other lymphomas, Autoimmune Diseases, Collagen vascular disease, Thymoma

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The only reliable CBC index that can be reported in the setting of cold agglutinins

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Hb

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Pathological vs Nonpathological Cold Agglutinin

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Pathological (Broad thermal range and High titers)

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Diseases associated with the following cold agglutinins; Anti-I and Anti-i

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Anti-I: M. pneumoniae and Anti-i: EBV-mononucleosis

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Dx of child post viral illness with severe anemia & "Biphasic Hemolysin Ab test"

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PCH (Paroxysmal Cold Hemoglobinuria): + Donath Landsteiner test (Hemolysis at 4 and 37 degrees C)

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Most common type of Cryoglobulinemia

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Type II: Monoclonal IgM (Rh factor activity Anti-IgG) and polyclonal IgG

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Most common cause of mixed Cryoglobulinemia

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Type II and Type III (HCV)

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Significance of increased Zinc Protoporphyrin and Free Erythrocyte Protoporphyrin

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Seen in Fe-def. anemia, Lead poisoning and Anemia of Chronic Disease

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Amount of Fe in 1ml of RBC

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1 mg

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Lab findings in B12 deficiency

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Increased Urinary MMA, Decreased B12 and Increased MCV

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Active form of folate and what's needed for its conversion?

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THF which needs B12