Red Cell and Platelet Disorders

Question 1

Patients with a change in the beta globin gene from Glu to Val at AA 6 are more succeptible to an aplastic crisis from this virus:

Answer 1

Parvovirus B19

Question 2

Presents with strokes in early childhood, splenic sequestration, megaloblastic anemia, acute chest syndrome, and more frequent infection by encapsulated bacteria.

Answer 2

Sickle Cell Anemia

Question 3

Clinical manifestations of a patient with 60% HbA and 40% HbS

Answer 3

Clinically benign, presents with sub-clinical renal damage- Impaired urine concentration and microhematuria (Sickle cell trait)

Question 4

Genetic defect in disease that presents with Hb levels of 10-12, sickling with dehydration, and is more mild and variable than sickle cell disease.

Answer 4

Glu to Lys substitution at 6th AA (Hemoglobin SC disease)

Question 5

Management of Sickle Cell

Answer 5

Infection prophylaxis, hydroxyurea, transfusions, allogeneic stem cell transplant

Question 6

Disease presenting with numerous target cells, spherocytes and occasional C crystals on blood smear

Answer 6

HbC Disease

Question 7

Class of autosomal inherited disease with decreased production of structurally normal globin chains. Presents with extravascular hemolysis, secondary hemachromatosis, skeletal deformities.

Answer 7

Thalassemia

Question 8

Symptoms a child with a Hb of 2-3 (all HbF) and absence/decreased beta chains on both alleles will experience from treatment.

Answer 8

Absent pubertal growth and period, DM, adrenal insufficiency, fatal cardiac disease in 20’s. (Iron Overload Symptoms, from transfusion treatment for beta-thal major)

Question 9

Symptoms of inadequately treated beta-thal major

Answer 9

Increased pigmentation, hyperuricemia, spontaneous fractures, hepatosplenomegaly, folate deficiency, death in childhood

Question 10

Elevated HbA2

Answer 10

Beta-thal Minor (heterozygote)

Question 11

Hypochromia, targeting, erythroblastosis

Answer 11

Beta-thal major blood smear

Question 12

Mild Anisopoikilocytosis, scattered target cells, basophilic stippling

Answer 12

Beta-thal minor blood smear

Question 13

Asymptomatic forms of alpha-thalassemias

Answer 13

Silent carrier-1 gene deletion

Alpha-Thal trait- 2 gene deletion (possible mild microcytic anemia)

Question 14

Symptomatic forms of alpha-thalassemias

Answer 14

Hemoglobin H- 3 gene deletion (impaired O2 transfer)

Hydrops Fetalis-4 gene deletion (Fatal)

Question 15

Most common defect in disease that presents with splenomegaly, increased risk of aplastic anemia by parvovirus, increased gallstones, negative DAT and spherocytes on smear. Extravascular.

Answer 15

Defect in Ankyrin-50% of cases (Hereditary Spherocytosis)

Other causes: Band 3 (15%), Band 4.2, alpha/beta-spectrin

Question 16

Method of inheritance of the most commonly inherited anemia

Answer 16

Autosomal (75%), sporadic (25%). (Hereditary Spherocytosis.

Question 17

The presence of heinz bodies indicates a disease with what type of inheritance mode?

Answer 17

X-Linked (G6PDH deficiency)

Question 18

Extra and intravascular hemolysis. Denaturation due to inability to reduce oxidant stress. Can diagnose with an assay and fluorescence.

Answer 18

G6PDH deficiency

Question 19

3 types of disease presenting with “bite cells”

Answer 19

G6PDA-moderate, in African Americans
G6PDmed-severe, in whites
G6PHcanton-moderate, Asian

Question 20

TREATMENT of IgG and compliment mediated anemia associated with B-cell lymphoproliferative disorders, autoimmune disorders, non-blood cancers, and methyldopa and cephalosporins.

Answer 20

Corticosteroids (Warm autoimmune hemolytic anemia-reacts at 37 degrees C)

Question 21

ANTIBODY that mediates anemias with extravascular (liver > spleen) and intravascular hemolysis. Found in acute (post-infectious) and chronic (lymphoproliferative disorders) form.

Answer 21

IgM (Cold autoimmune hemolytic anemia-reacts at less than 30 degrees C)

Question 22

If you find Schistocytes on blood smear, CNS symptoms, Thrombocytopenia, Fever, Renal Insufficiency, what test should you run?

Answer 22

ADAMTS13 -A mutation results in improper cleavage of von Willebrand Factor (Thrombotic Thrombocytopenic Purpura)

Question 23

Causes of shearing and lysis of cells in anemia associated with malfunctioning heart valve, DIC, TTP, metastatic carcinoma, malignant hypertension.

Answer 23

Turbulent flow, vascular obstruction (Microangiopathic anemia)

Question 24

Acquired anemia causing pancytopenia, hemoglobinuria and hypercoaguability. Caused by a Stem Cell deficiency in GPI linker proteins. Which CDs are deficient?

Answer 24

CD55 and CD59 (PNH)

Question 25

A 65 year old presents with a microcytic, hypochromic anemia with pronounced anisopoikilocytosis, decreased ferritin and increased TIBC. What is the most likely cause of the diagnosis?

Answer 25

Gastrointestinal Carcinoma (Iron Deficiency Anemia)

Question 26

Microcytic and hypochromic anemia, decreased TIBC, increased Ferritin. Most common cause of anemia in hospitalized patients. Which inflammatory marker is elevated?

Answer 26

Hepcidin (Anemia of Chronic Disease)

Question 27

Normochromic and normocytic anemia with echinocytes (Burr cells) on blood smear. Associated with chronic kidney disease. What is the treatment?

Answer 27

Recombiant EPO (Anemia of Renal Failure)

Question 28

Macrocytic and associated with pancytopenia. Associated with cirrhosis and chronic hepatitis.

Answer 28

Anemia of Liver Disease

Question 29

Macrocytic anemia. Anisopoikilocytosis and hypersegmented neutrophils. Pancytopenia, low reticulocytes. Increased methylmalonic acid. Neuro defects. Where is the deficient molecule absorbed?

Answer 29

Ileum (Vitamin B12 deficiency/Pernicious anemia)

Question 30

Macrocytic anemia, hypersegmented PMNs. Pancytopenia. Decreased serum folate and normal methylmalonic acid. Which drugs can cause this?

Answer 30

Methotrexate-Dihydrofolate reductase inhibitor (Folate Deficiency)

Question 31

Normochromic and normocytic anemia. Pancytopenia. Stem cell disorder due to short telomere length (TERT/TERC mutation), can become MDS or AML. How is this diagnosed?

Answer 31

Camitta Criteria-2/3 PMNs, platelets, reticulocytes low; hypocellular bone marrow (Aplastic Anemia)

Question 32

Selective inhibition of erythroid precursors. Normocytic and normochromic. Autoimmune destruction of precursors? Associated with thymic hyperplasia, large granular lymphocytic leukemia, drugs, autoimmune disease.

Answer 32

Pure Red Cell Aplasia

Question 33

Metastatic carcinoma infiltrating the bone marrow, leukoerythroblastic reaction. What is seen on the blood smear?

Answer 33

Teardrop cells (Myelophthistic Anemia)

Question 34

Abrupt onset of severe thrombocytopenia in a child caused by autoantibodies binding to platelet glycoproteins and decreased platelet survival. Results in mucocutaneous bleeding, increased megakaryocytes. Usually resolves on its own. What causes this disease?

Answer 34

Virus (ITP)

Question 35

Antibody mediated platelet destruction, causing mucocutaneous bleeding that does not resolve on its own. How is this treated?

Answer 35

Corticosteroids (ITP)

Question 36

Immune mediated binding of Heparin PF4 to IgG via Fc receptor, increases thrombotic events. Treat by stopping Heparin and giving argatroban or bivalirudin. How many days after initial therapy does this reaction occur?

Answer 36

4-14 days (Heparin-Induced Thrombocytopenia)

Question 37

Patient presents with renal failure, mental status changes and fever. They test positive for a ADAMTS13 mutation. What type of cells are visible on blood smear?

Answer 37

Schistocytes (Thrombotic Thrombocytic Purpura)

Question 38

Patient presents with mucocutaneous bleeding and a normal PT. They improve with desmopressin. What factor is carried by the protein deficient in this patient?

Answer 38

Factor 8 (Von Willebrand's Disease)

Question 39

Congenital absence of GP1b

Answer 39

Bernard Soulier Syndrome

Question 40

Congenital absence of GPIIb/IIIa

Answer 40

Glanzman's thrombasthenia

Question 41

Patient presents with hemarthrosis and deep bleeding. They have a prolonged PTT, corrects on 1:1 mix. The disorder was autosomally inherited. What is the deficient factor?

Answer 41

11 (Hemophilia C)

Question 42

Patient presents with hemarthrosis and deep bleeding. They have a prolonged PTT, corrects on 1:1 mix. This disorder may be additionally affected by a vWF deficiency. What is this disorder?

Answer 42

Hemophilia A (Factor 8 is carried by vWF)

Question 43

Patient presents with hemarthrosis and deep bleeding. They have a prolonged PTT, corrects on 1:1 mix. They are found to have a deficiency in factor 9. How is this disorder inherited?

Answer 43

X-linked (Hemophilia B)

Question 44

Vitamin K dependent Factors

Answer 44

2, 7, 9, 10, C and S

Question 45

Increased risk of DVT, 10 more frequent than other deficiencies. Arg506 is replaced with Gln. The PTT does not prolong with additions of protein C. What is the diagnosis?

Answer 45

Factor 5 Leiden Deficiency (Resistance to activated protein C)

Question 46

Elevated factor 2 levels, increased risk for DVT/PE. What is the mutation causing this?

Answer 46

G20210A (Prothrombin gene variation)

Question 47

Prolonged PTT, failure to correct on 1:1 mix, but time corrects with high amounts of phospholipid. Venous and arterial thrombosis. What antibody is present in this disorder?

Answer 47

Anti-cardiolipin (Antiphospholipid antibody syndrome)