Flashcards
Anemias Part 2
Flashcards do conjunto (80)
- 1What is the official molecular designation of Hemoglobin C disease?LYS6GLU
- 2What is the official molecular designation of Sickle Cell disease?VAL6GLU
- 3Genotypes are?actual genes
- 4phenotypes are?what the genes represent
- 5Homozygous means?same gene
- 6Heterozygous means?different genes
- 7what is homo alpha hemoglobinopathy?No normal alpha chains; does not support life
- 8What is the result of homo alpha thalassemia?hgb barts
- 9what is hgb Barts?develops in fetuses with 4 gene alpha chain deletion; gamma chains combine to form gamma tetramers
- 10what is the result of hgb Barts?(hydrops fetalis) die in utero
- 11what is a major hallmark in thalassemia?extremely increased hgb F, in adulthood
- 12Thalassemia is quantitative or qualitative?quantitative
- 13beta thalassemia is caused by?a block in beta chains
- 14alpha thalassemia is caused by?a block in alpha chains
- 15how would you characterize thalassemia?genetic; not gender specific; no treatment
- 16who does beta thalassemia affect primarily?people from mediteranean origin, asian and african descent
- 17who does alpha thalassemia affect primarily?people in SE asian, indian, chinese or philipino origin or ancestry
- 18What is the other name for beta thalassemia major?Cooley's anemia
- 19What hallmark is important to beta thalassemia?individuals die before 13 yrs of age
- 20what are signs/symptoms of homo beta thalassemia (cooley's anemia)?jaundice, cholelithiasis (gallstones), splenomegaly, tissue hemosiderosis (iron deposits in tissues), Increased urobilinogen in urine
- 21what does peripheral blood in homo beta thalassemia (cooley's anemia) show?target cells, marked aniso, 10-20 erythroblasts (rubliblasts), Increased retics;
Decreased MCV, MCH, and MCHC - 22what does the bone marrow of homo beta thalassemia show?hyperplasia with increased iron storage; increased hgb A2 and F
- 23what is a quantitative hemoglobinopathy caused by?reduction in the number of normal chains
- 24what is a qualitative hemoglobinopathy caused by?substitution of a single amino acid on the chain
- 25if your only missing one chain it is called?minor or minima (trait)
- 26if your missing all chains it is called?major or intermedia (disease/anemia)
- 27hetero vs homo beta thalassemia?hetero: life is possible, less severe;
homo: increased inclusions - 28what type of hgb is present in hetero alpha thalassemia?hgb H
- 29what is hgb H?four beta chains combine
- 30what is one of the major problems with homo beta thalassemia (cooley's anemia)?mimics iron deficiency; iron overload but the bone marrow does not transform Fe3+ to Fe2+ state; patients become poisoned by the iron intake
- 31what is hgb constant spring?2 abnormal alpha (with 31 additional amino acids) and 2 normal beta chains
- 32what is hgb lepore?composed of delta and beta chains; some A, A2, F, with hgb lepore
- 33what is the difference in sickle cell anemia and trait?sickle cell trait contains some normal hgb A
- 34hgb S results from what?valine substitutes for glutamic acid on the 6th amino acid
- 35sickling occurs when?decreased oxygen to tissues
- 36what is affected in sickle cell anemia (homo)?growth hormone levels, endocrine system, and fertility.
- 37what are signs/symptoms of sickle cell anemia (homo)?mild to severe pain, chronic fatigue, weakness, pallor
- 38what is the primary cause of death in sickle cell anemia (homo)?infectious crises (streptococcus pneumoniae)
- 39what are lab findings in sickle cell anemia?aniso/poik (drepanocytes); segmented neutrophils; increased nrbc's; ESR decreased; bilirubin and urobilinogen increased
- 40the sickle cell solubility test is positive when?if any hgb S is present
- 41what hgb is found with sickle cell anemia (homo)?hgb S and hgb F; no hgb A
- 42what are lab findings in sickle cell trait (hetero)?RBC morphology is normal; hematuria (RBC in urine) and hyposthenuria (dilute urine)
- 43Hgb C (qualitative) results from?lysine substitutes glutamic acid on the 6th beta
- 44what is the most common hgb variant?hgb S
- 45what is the second most common hgb variant?hgb C
- 46what is common to cause sickling of cells to increase?high elevations
- 47what does peripheral blood in hgb C disease (homo) show?NC/NC anemia mildly; target cells and spherocytes; hgb 8-12; increased retic
- 48hemoglobin SC disease (hetero) characteristics?thick blood causing heart failure; see more sickled cells than sickle cell anemia; No hgb A
- 49what test is used to confirm hgb D or hgb S?solubility test
("dithionate tube test") - 50what is hgb E?lysine for glutamic acid on the 26th; third most common hgb variant
- 51what does hgb E commonly combine with?beta thalassemia
- 52Dithionate test includes?adding saponin lyses the RBCs; sodium dithionate binds and removes oxygen causing sickling; the RBCs gather at the bottom and precipitation is present when positive
- 53which hgb is the sturdiest?hgb F
- 54what is the correct order of hgb's on an cellulose acetate electrophoresis?Crawl, Slow, Fast, Athletic
- 55cellulose acetate Hgb electrophoresis (quantitative) is?based on net charge of the hgb variant; the greater the charge the more it is attracted to positive
- 56citrate agar (qualitative) hgb electrophoresis?often used as a confirmatory test to differentiate hgb S or hgb C
- 57what test is used to determine if moms blood is mixed with baby's?kleuhauer-betke test
- 58what tests are used for hgb F?alkali denaturation test; acid elution (kleuhauer-betke) test
- 59what intrinsic (inherited) disorders result in hemolytic disease?defects in the RBC membrane and enzyme deficiencies
- 60what conditions result from intrinsic problems effecting structure?sickle cell anemia
- 61what conditions result from intrinsic problems effecting synthesis?thalassemia
- 62what extrinsic (acquired) disorders result in hemolytic anemia?incompatible blood; HDN (mom incompatible with baby); viruses/bacteria/parasitic; trauma; chemical toxins; PNH (red wine urine)
- 63tests used for RBC destruction in hemolytic anemia?Cr51 (nuclear med) test; fecal uribilinogen test
- 64tests used for intravascular hemolysis, in hemolytic anemia?plasma hgb (nauman test); urinalysis; sucrose hemolysis (hamm's test)
- 65tests used for extravascular hemolysis, in hemolytic anemia?blood smear (schistocytes); autoimmune tests; heinz body preparation; G6PD (enzyme tests); hgb electrophoresis; osmotic fragility (rare)
- 66what is characteristic of homo alpha?does not support life
- 67what is the first hgb made by a fetus?gower 1: (4 epsilon chains)
- 68what hgb is present in neonates with hetero alpha thalassemia?hgb barts which develops into hgb H
- 69what condition develops with hetero alpha thalassemia?chronic, severe hemolytic anemia
- 70what is characteristic of sickle cells?they sickle and get stuck in tissues, then cause pain to the tissues because of decreased oxygen levels
- 71what is a splenic sequestration crises?when sickle cells become trapped, spleen then removes the sickled cells and no normal RBCs are produced by the bone marrow to replace the ones removed but abnormal cells. often leads to splenomegaly
- 72what are the different crises associated with sickle cell anemia?aplastic crises, infectious crises, and splenic sequestration crises
- 73what is aplastic crises?when bone marrow shuts down
- 74in infants, 6-9 mos, what are the first sites affected by crises?small bones of hands and feet
- 75with sickle cell trait, how much hgb S is shown on a hgb electrophoresis?30-45%
- 76with sickle cell anemia, how much hgb S is shown on a hgb electrophoresis?80-90%
- 77with hgb C disease, how much hgb C is shown on a hgb electrophoresis?> 90%
- 78with hgb C trait, what are typical characteristics?Higher % hgb A than hgb C; RBCs are hypochromic; 40% target cells
- 79with hgb SC disease, what does the hgb electrophoresis show?equal amounts of hgb S and hgb C; some hgb F; no hgb A
- 80with hgb SC disease, what is a significant clinical finding?aseptic necrosis of the femoral head