3857984
Descrição
FlashCards por Josefina Gonzalez, atualizado more than 1 year ago
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Criado por Josefina Gonzalez
aproximadamente 9 anos atrás
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| Questão | Responda |
| What is the official molecular designation of Hemoglobin C disease? | LYS6GLU |
| What is the official molecular designation of Sickle Cell disease? | VAL6GLU |
| Genotypes are? | actual genes |
| phenotypes are? | what the genes represent |
| Homozygous means? | same gene |
| Heterozygous means? | different genes |
| what is homo alpha hemoglobinopathy? | No normal alpha chains; does not support life |
| What is the result of homo alpha thalassemia? | hgb barts |
| what is hgb Barts? | develops in fetuses with 4 gene alpha chain deletion; gamma chains combine to form gamma tetramers |
| what is the result of hgb Barts? | (hydrops fetalis) die in utero |
| what is a major hallmark in thalassemia? | extremely increased hgb F, in adulthood |
| Thalassemia is quantitative or qualitative? | quantitative |
| beta thalassemia is caused by? | a block in beta chains |
| alpha thalassemia is caused by? | a block in alpha chains |
| how would you characterize thalassemia? | genetic; not gender specific; no treatment |
| who does beta thalassemia affect primarily? | people from mediteranean origin, asian and african descent |
| who does alpha thalassemia affect primarily? | people in SE asian, indian, chinese or philipino origin or ancestry |
| What is the other name for beta thalassemia major? | Cooley's anemia |
| What hallmark is important to beta thalassemia? | individuals die before 13 yrs of age |
| what are signs/symptoms of homo beta thalassemia (cooley's anemia)? | jaundice, cholelithiasis (gallstones), splenomegaly, tissue hemosiderosis (iron deposits in tissues), Increased urobilinogen in urine |
| what 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 |
| what does the bone marrow of homo beta thalassemia show? | hyperplasia with increased iron storage; increased hgb A2 and F |
| what is a quantitative hemoglobinopathy caused by? | reduction in the number of normal chains |
| what is a qualitative hemoglobinopathy caused by? | substitution of a single amino acid on the chain |
| if your only missing one chain it is called? | minor or minima (trait) |
| if your missing all chains it is called? | major or intermedia (disease/anemia) |
| hetero vs homo beta thalassemia? | hetero: life is possible, less severe; homo: increased inclusions |
| what type of hgb is present in hetero alpha thalassemia? | hgb H |
| what is hgb H? | four beta chains combine |
| what 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 |
| what is hgb constant spring? | 2 abnormal alpha (with 31 additional amino acids) and 2 normal beta chains |
| what is hgb lepore? | composed of delta and beta chains; some A, A2, F, with hgb lepore |
| what is the difference in sickle cell anemia and trait? | sickle cell trait contains some normal hgb A |
| hgb S results from what? | valine substitutes for glutamic acid on the 6th amino acid |
| sickling occurs when? | decreased oxygen to tissues |
| what is affected in sickle cell anemia (homo)? | growth hormone levels, endocrine system, and fertility. |
| what are signs/symptoms of sickle cell anemia (homo)? | mild to severe pain, chronic fatigue, weakness, pallor |
| what is the primary cause of death in sickle cell anemia (homo)? | infectious crises (streptococcus pneumoniae) |
| what are lab findings in sickle cell anemia? | aniso/poik (drepanocytes); segmented neutrophils; increased nrbc's; ESR decreased; bilirubin and urobilinogen increased |
| the sickle cell solubility test is positive when? | if any hgb S is present |
| what hgb is found with sickle cell anemia (homo)? | hgb S and hgb F; no hgb A |
| what are lab findings in sickle cell trait (hetero)? | RBC morphology is normal; hematuria (RBC in urine) and hyposthenuria (dilute urine) |
| Hgb C (qualitative) results from? | lysine substitutes glutamic acid on the 6th beta |
| what is the most common hgb variant? | hgb S |
| what is the second most common hgb variant? | hgb C |
| what is common to cause sickling of cells to increase? | high elevations |
| what does peripheral blood in hgb C disease (homo) show? | NC/NC anemia mildly; target cells and spherocytes; hgb 8-12; increased retic |
| hemoglobin SC disease (hetero) characteristics? | thick blood causing heart failure; see more sickled cells than sickle cell anemia; No hgb A |
| what test is used to confirm hgb D or hgb S? | solubility test ("dithionate tube test") |
| what is hgb E? | lysine for glutamic acid on the 26th; third most common hgb variant |
| what does hgb E commonly combine with? | beta thalassemia |
| Dithionate 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 |
| which hgb is the sturdiest? | hgb F |
| what is the correct order of hgb's on an cellulose acetate electrophoresis? | Crawl, Slow, Fast, Athletic |
| cellulose acetate Hgb electrophoresis (quantitative) is? | based on net charge of the hgb variant; the greater the charge the more it is attracted to positive |
| citrate agar (qualitative) hgb electrophoresis? | often used as a confirmatory test to differentiate hgb S or hgb C |
| what test is used to determine if moms blood is mixed with baby's? | kleuhauer-betke test |
| what tests are used for hgb F? | alkali denaturation test; acid elution (kleuhauer-betke) test |
| what intrinsic (inherited) disorders result in hemolytic disease? | defects in the RBC membrane and enzyme deficiencies |
| what conditions result from intrinsic problems effecting structure? | sickle cell anemia |
| what conditions result from intrinsic problems effecting synthesis? | thalassemia |
| what extrinsic (acquired) disorders result in hemolytic anemia? | incompatible blood; HDN (mom incompatible with baby); viruses/bacteria/parasitic; trauma; chemical toxins; PNH (red wine urine) |
| tests used for RBC destruction in hemolytic anemia? | Cr51 (nuclear med) test; fecal uribilinogen test |
| tests used for intravascular hemolysis, in hemolytic anemia? | plasma hgb (nauman test); urinalysis; sucrose hemolysis (hamm's test) |
| tests used for extravascular hemolysis, in hemolytic anemia? | blood smear (schistocytes); autoimmune tests; heinz body preparation; G6PD (enzyme tests); hgb electrophoresis; osmotic fragility (rare) |
| what is characteristic of homo alpha? | does not support life |
| what is the first hgb made by a fetus? | gower 1: (4 epsilon chains) |
| what hgb is present in neonates with hetero alpha thalassemia? | hgb barts which develops into hgb H |
| what condition develops with hetero alpha thalassemia? | chronic, severe hemolytic anemia |
| what is characteristic of sickle cells? | they sickle and get stuck in tissues, then cause pain to the tissues because of decreased oxygen levels |
| what 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 |
| what are the different crises associated with sickle cell anemia? | aplastic crises, infectious crises, and splenic sequestration crises |
| what is aplastic crises? | when bone marrow shuts down |
| in infants, 6-9 mos, what are the first sites affected by crises? | small bones of hands and feet |
| with sickle cell trait, how much hgb S is shown on a hgb electrophoresis? | 30-45% |
| with sickle cell anemia, how much hgb S is shown on a hgb electrophoresis? | 80-90% |
| with hgb C disease, how much hgb C is shown on a hgb electrophoresis? | > 90% |
| with hgb C trait, what are typical characteristics? | Higher % hgb A than hgb C; RBCs are hypochromic; 40% target cells |
| with hgb SC disease, what does the hgb electrophoresis show? | equal amounts of hgb S and hgb C; some hgb F; no hgb A |
| with hgb SC disease, what is a significant clinical finding? | aseptic necrosis of the femoral head |
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