wk 1-3 Flashcards

Question

What defines macrocytic megaloblastic anemia? (b9 vs b12)

Answer 1

Folate (B9) deficiency: reduced intake of leafy greens and fortified veggies, absorption, metabolism, pregnancy utilization; risks: neural tube defects. B12 deficiency: reduced intake of meats, absorption (needs intrinsic factor/terminal ileum), neurological symptoms (paresthesias); stored in liver. Intrisic factor important for B12 absorption, done in terminal ileum, methylmalonic acid elevated, B12 stored in liver

Answer 2

Inc reticulocytes, bilirubin, LDH; dec haptoglobin.

Answer 3

Autosomal dominant. ( membrane issue with spectrin and ankyrin) Features: anemia, jaundice, dark colored urine, splenomegaly; RBC shape: hyperchromic spherocytosis, reticulocytosis. Increased MCHC (most reliable) Osmotic fragility test positive. negative coombs tx: folic acid, splenectomy

Answer 4

X-linked. Enzyme protects against oxidative stress. Hemolysis triggered by infections, medications, fava beans. Features: Heinz bodies, blister/bite cells. new onset of fatigue, skin discoloaration, dark urine from starting sulfa drug

Answer 5

○ If 1 gene missing = silent carrier ○ 2 genes missing = thalassemia trait ○ 3 genes missing/deleted (1 present) = Hemoglobin H disease (HbH inclusion bodies, target cells) HbH is formed by beta globin tetramers (B4), tetramers precipitate as heinz bodies (golf ball looking) in RBCs and reduce lifespan of affected RBCs ○ 4 genes missing (0 present) = Hb BARTS (gamma globin tetrameres) Hydrops fetalis (alpha thal major) Beta: - minor = heterozygous, most are asymptomatic, mild anemia, increased Hb A2, Hb F major = homozygous (severe anemia, skeletal deformities); increased Hb A2, Hb F note: - IDA: LOW HbF and HbA2

Answer 6

Autosomal recessive: decreased production of globin chains - severe anemia if either major ds goes untreated skeletal changes (ex. Chipmunk facies, pathological fx, short stature) suspect: - microcytic hypochromic - normal or increased serum iron - normal or increased ferattin

Answer 7

4 is normal # of alpha globin genes, differentiate from beta with Hb electrophoresis (normal levels of Hb A2 and F in A; B will have increased A2 and F) Alpha: - 1-2 genes: normal Hb ration = no tx - 3 genes: Hb H (beta chain tetrameres); HEINZ BODIES - 4: hb BART - GAMMA TETRAMERES (yyyy)

Answer 8

- Autosomal recessive disorder characterized by sickle-shaped cells. - Vaso-occlusion leads to tissue infarction and organ damage. - Normocytic with high reticulocytes (retics), RDW, and Howell-Jolly bodies present. - Caused by a point mutation in the B-globin chain of glutamic acid (glutamate) to valine. - Risks: Infection, dehydration, hypoxia, hemorrhage, and strenuous exercise.

Answer 9

- hemolysis and microangiopathic diseases: DIC, TTP/HUS - TTP: schistocytes and polychromasia

Answer 10

IgG-mediated ('Gas = warm'). - autoimmune hemolytic anemia caused by circulating IgG antibodies against red blood cells (Rh antigen) that are active at ≥ 37°C - Causes: primary = idiopathic; secondary = lupus, CLL, methyldopa. Features: jaundice, splenomegaly. Positive Coombs test (IgG and C3+) Tx: steroids, splenectomy.

Answer 11

IgM-mediated ('Mittens = cold'). - against I antigen Causes: primary = idiopathic; secondary = lymph disorders, infections. Features: Raynaud’s, no splenomegaly. Positive Coombs test ( C3+) Tx: immunosuppressants (NO STEROIDS OR SPLENECTOMY)

Answer 12

Pre-splenectomy: pneumococcal, meningococcal, Hib vaccines (2 weeks prior). (this is bc you are more susceptible to strep pneumoniae, Hae influenzae, and neisseria meningitidis) Post splenectomy (asplenism) = pt. Is found to have Howell-Jolly bodies (or if they’re hyposplenic = sickle cell) Howell jolly bodies: - small dense basophilic RBC includsions (usually removed by spleen) - found in things with decreased splenic function: sickle cell ds, severe hemolytic anemia, megaloblastic anemia ## Footnote Post-splenectomy: Howell-Jolly bodies.

Answer 13

PUD increases likelihood of IDA.

Answer 14

Differentiates IDA (low RBC count) vs. thalassemia (high RBC count).

Answer 15

Infection, dehydration, hypoxia, hemorrhage, strenuous exercise.

Answer 16

For sickle cell: avoid sick people, maintain strict hygiene.

Answer 17

Swelling in hands/feet in infants; aka hand-foot syndrome.

Answer 18

Frequent transfusions -> iron overload.

Answer 19

Positive for IgG in warm antibody-induced hemolysis.

Answer 20

Nuclear remnants in RBCs, seen post-splenectomy or in hyposplenic conditions (e.g., sickle cell anemia).

Answer 21

Chronic blood loss from ulcers.

Answer 22

Differentiates IDA (low RBC count) from thalassemia (high RBC count).

Answer 23

Infection, dehydration, hypoxia, hemorrhage, strenuous exercise.

Answer 24

- Chronic therapy: Hydroxyurea (Hydrea) -Blood transfusions are avoided due to hyperviscosity risk; exchange transfusions are reserved for severe cases (e.g., Acute Chest Syndrome).

Answer 25

- RBC breakdown leads to hemoglobin release in urine, causing dark-colored urine in the morning. - Acquired genetic mutation causing a membrane defect due to the absence of the PIG-A gene -> no cd55 or 59 - intravascular hemolysis

Answer 26

- Can be caused by Parvovirus B19 during pregnancy, leading to severe complications for mother and fetus. - Bone marrow transplantation is the gold standard treatment for AA.

Answer 27

Acquired bone marrow disorders with abnormalities in all three myeloid lines. characterized by - abnormal maturation of cells - clonal hematopoeisis - over 1 cytopenia - precursure to AML Symptoms include anemia, infection, and bleeding from pancytopenia - Auer rods within blasts are uncommon but diagnostic of MDS with excess blasts - Differs from AA with normal/increased marrow cellularity, often increased blasts, and positive megakaryocytes. but Blast percentage <20%. think this in elderly with unexplained pancytopenia with hx of chemotherapy

Answer 28

- Disorders involving one or more bone marrow cell lines, often associated with JAK2 mutation. (Polycythemia vera, essential thrombocytopenia, myelofibrosis).

Answer 29

Over 95% have acquired mutations of JAK2, inc in all blood cells, can lead to strokes and organ damage, caused by a genetic mutation. - Secondary can be caused by high altitude, pulm/cardio ds, etc. - pt can present with tiredness, depression, vertigo, tinnitus, visual disturbnce, HTN, angina, intermittent claud, bleeding, Itching after showers is common. -Thrombosis and hemorrhage are the main complications. - Phlebotomy and Hydrea are used to keep Hct below 45% and PLT count under 400k, Aspirin also important in Mx.

Answer 30

PLT elevated, get thromboembolic issues - JAK 2 mutation tests are useful but is present in much lower % of cases that PV. - A person who has a very high PLT count (> 1 mil microL), who is clinically normal and in good health probably has ET. - > 450k is the criteria for ET tho, itchiness is very uncommon unlike PV, can see livedo reticularis, atypical chest pain. - Tx is with hydroxyurea to control PLT count to less than 400k.

Answer 31

Increased fibrosis in bone marrow, fullness in upper abdomen, can see massive splenomegaly, tear drop shaped RBCs (dacrocytes), anemia with leukoerythroblastic features. - JAK mutation present, splenectomy can be helpful. - Overall = enlarged liver/spleen, impaired blood cell production from build up of fibrosis, and constitutional symptoms.

Answer 32

Acquired d/o immune related destruction of PLT, children = acute, adults = chronic. - Characterized by mucocutaneous bleeding (ex. Oral mucosa) and a very low PLT count, otherwise normal peripheral smear. - Pt.’s present with bruising and petechiae. - Tx starts under 30k PLT = can use prednisone.

Answer 33

TTP = FAT RN” Thrombocytopenia, microangiopathic hemolytic anemia. - Primarily in Adults - Presents with classic pentad = anemia, thrombocytopenia, renal failure, neuro findings, fever. - Related to deficiency of ADAMTS13 which cleaves VWF, levels < 10% more clearly assosc with idiopathic TTP. - ADAMTS13 deficiency -> increase in von Willebrand factor (like sticky paper) -> more platelet adhesion -> microthrombosis in vessels - ADAMTS13 tests are required for confirming dx, - < 10% is diagnostic of TTP, peripheral smear can have schistocytes and polychromasia. - Plasma exchange therapy is Tx of choice, Rituximab if that fails.

Answer 34

- Acute renal failure, microangiopathic hemolytic anemia, and thrombocytopenia. - E.COLI O157:H7, - cytotoxic effect of shiga toxins. - Primarily in children, - Diarrhea is a common finding, hematuria, thrombosis, significant purpura, - Tx primarily supportive.

Answer 35

HIT 1 - non immune related, 1-4 days after, resolves spontaneously when heparin is stopped. HIT 2 - Immune mediated, 5-14 days after, may cause serious thromboembolic consequences, heparin MUST be discontinued.

Answer 36

Bone marrow 15% blasts reduced erythropoesis Bone marrow with <20% blasts, reduced erythropoiesis, and abnormal blood cell production.

wk 1-3 Flashcards

(60 cards)