Hematology

Question 1

Diamond-Blackfan Syndrome

Answer 1

Congenital hypoplastic anemia (specifically RBCs– reticulocytopenia and macrocytic anemia in an otherwise normal cellular marrow); dysmorphic facial features and absent thumbs/limb abnormalities; presents <1 year old; need to rule out parvovirus B19 infection

Question 2

Diamond-Blackfan Syndrome

Answer 2

Congenital hypoplastic anemia (specifically RBCs– reticulocytopenia and macrocytic anemia in an otherwise normal cellular marrow); dysmorphic facial features and absent thumbs/limb abnormalities; presents <1 year old; need to rule out parvovirus B19 infection

Responds to corticosteroid therapy

Question 3

Transient erythroblastopenia of childhood

Answer 3

Usually occurs between 1-4 years of age– can be similar to Diamond-Blackfan except occurs in previously healthy children (without the dysmorphic features) and is self-limited

Question 4

Name the likely condition: splenomegaly, jaundice, intermittent RUQ abdominal pain, hemolytic anemia, reticulocytosis

Answer 4

Hereditary Spherocytosis

Question 5

What is hydroxyurea therapy useful for? What is a side-effect of hydroxyurea?

Answer 5

Used for sickle cell disease to help decrease sickling; increases HbF and decreases fraction of HbS.
Side effect– causes leukopenia

Question 6

Most common cause of death in patient with sickle cell disease?

Answer 6

Acute chest syndrome

Question 7

Common treatments for immune thrombocytopenia?

Answer 7

IVIG, steroids, or anti-Rho (D) antibodies

Question 8

Name the disorder: foul-greasy loose stools, FTT, and neutropenia. What gene mutation causes this disorder?

Answer 8

Shwachman-Diamond syndrome. SBDS gene mutation.

Question 9

What disorder is similar to cystic fibrosis?

Answer 9

Shwachman-Diamond syndrome– (except no neutropenia and abnormal sweat chloride test in cystic fibrosis).

Question 10

Name the disorder: short stature, webbed neck, bone marrow poor in RBC precursors, thick upper lip, THUMB abnormalities (bifid, hypoplastic or completely missing)

Answer 10

Diamond-Blackfan syndrome

Question 11

Webbed neck is a common feature as part of which hematologic disorder?

Answer 11

Diamond-Blackfan syndrome

Question 12

When should you test Glucose 6-phosphate dehydrogenase activity?

Answer 12

2-3 months out from an acute exacerbation– because of increased reticulocyte count, reticulocytes have higher G6PD activity than normal cells; may not be able to appreciate a diagnostic difference in G6PD activity

Question 13

When should you test Glucose 6-phosphate dehydrogenase activity?

Answer 13

2-3 months out from an acute exacerbation– because of increased reticulocyte count, reticulocytes have higher G6PD activity than normal cells; may not be able to appreciate a diagnostic difference in G6PD activity

Question 14

Name the disorder: microcytic, hypochromic anemia, frontal bossing, maxillary hyperplasia, growth retardation, hepatosplenomegaly, jaundice

Answer 14

Beta- thalassemia major (AKA Cooley’s anemia), alpha hemoglobin multimers are unstable and precipitate out easily leading to poor erythropoiesis; subsequent bone marrow hyperplasia to help recruit more reticulocytes (frontal bossing, maxillary hyperplasia, HSM).

Will need transfusions and subsequent chelation therapy throughout their lives

Question 15

True or False. G6PD deficiency is more common in African Americans than in Mediterraneans.

Answer 15

False, Mediterraneans > African Americans.

Question 16

True or False. G6PD deficiency is more common in African Americans than in Mediterraneans.

Answer 16

False, Mediterraneans > African Americans.

Question 17

What is a mixing study?

Answer 17

Mix patient blood with FFP (has coagulation factors). If factor deficiency, will resolve prolonged aPTT or PT/INR. If 1:1 mixing does not resolve issue, then an inhibitor problem OR heparin contamination.

Question 18

What is the definition of neutropenia?

Answer 18

ANC <1500:
Mild if ANC 1000-1500
Moderate ANC 500-1000
Severe ANC< 500

Question 19

What is the definition of neutropenia?

Answer 19

ANC <1500:
Mild if ANC 1000-1500
Moderate ANC 500-1000
Severe ANC< 500

Question 20

Name the disorder: large platelets, poor clot formation with prolonged bleeding time, prolonged aPTT.

Answer 20

Bernard-Soulier
Autosomal recessive
Deficiency in Glycoprotein 1b, cannot bind platelets to form a clot plug at the site of an injury.
Glycoprotein 1b binds to vWF (which complexes with Factor VIII), so will present as a prolonged aPTT.

Question 21

True or false. Parvovirus B19 infection commonly causes pancytopenia.

Answer 21

False. Usually just severe aplastic anemia.

Question 22

Differential diagnosis for pancytopenia.

Answer 22

Acute leukemia or acute aplastic crisis due to bone marrow suppression.

Question 23

Name the likely associated disorder: bone within bone reflecting old and new cortex, history of recurrent osteomyelitis.

Answer 23

Sickle cell disease.

Question 24

Name the likely associated disorder: bone within bone reflecting old and new cortex, history of recurrent osteomyelitis.

Answer 24

Sickle cell disease.

Question 25

Name the disorder: dysmorphic facies, horseshoe kidney, short stature, hyperpigmentation in intertriginous areas, multiple cafe-au-lait spots, pancytopenia, thumb or radius anomalies

Answer 25

Fanconi anemia

Question 26

What malignancy are patients with Fanconi anemia at risk for having?

Answer 26

AML

Question 27

Hemoglobin A? A2? F?

Answer 27

A: a2b2
A2: a2d2 (seen in beta-thalassemia)
F: a2g2

Question 28

What labs are sensitive early signs of liver failure?

Answer 28

Low factor V (factor VIII is not made exclusively in the liver), albumin, and prolonged PT.

Question 29

What labs are sensitive early signs of liver failure?

Answer 29

Low factor V (factor VIII is not made exclusively in the liver) and albumin.

Question 30

Kostmann Syndrome

Answer 30

Neutropenia with myeloid arrest that is resistant to granulocyte stimulating factor.

Question 31

Goat’s milk consumption is associated with anemia secondary to deficiency of what?

Answer 31

Folic acid

Question 32

Goat’s milk consumption is associated with anemia secondary to deficiency of what?

Answer 32

Folic acid

Question 33

Spooning deformity of the nails is associated with what deficiency? What is the scientific name for this phenomenon?

Answer 33

Iron deficiency

Koilonychia

Question 34

What physiologically occurs in Factor V Leiden?

Answer 34

Point mutation in Factor V renders factor V resistance to cleavage by protein C– therefore protein C resistant.

Question 35

When do you start supplementing iron?

Answer 35

Iron stores deplete around 4 months of age for term infants and around 2 weeks to 2 months for premature infants.