Hematology Flashcards
Diamond-Blackfan Syndrome
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
Diamond-Blackfan Syndrome
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
Transient erythroblastopenia of childhood
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
Name the likely condition: splenomegaly, jaundice, intermittent RUQ abdominal pain, hemolytic anemia, reticulocytosis
Hereditary Spherocytosis
What is hydroxyurea therapy useful for? What is a side-effect of hydroxyurea?
Used for sickle cell disease to help decrease sickling; increases HbF and decreases fraction of HbS.
Side effect– causes leukopenia
Most common cause of death in patient with sickle cell disease?
Acute chest syndrome
Common treatments for immune thrombocytopenia?
IVIG, steroids, or anti-Rho (D) antibodies
Name the disorder: foul-greasy loose stools, FTT, and neutropenia. What gene mutation causes this disorder?
Shwachman-Diamond syndrome. SBDS gene mutation.
What disorder is similar to cystic fibrosis?
Shwachman-Diamond syndrome– (except no neutropenia and abnormal sweat chloride test in cystic fibrosis).
Name the disorder: short stature, webbed neck, bone marrow poor in RBC precursors, thick upper lip, THUMB abnormalities (bifid, hypoplastic or completely missing)
Diamond-Blackfan syndrome
Webbed neck is a common feature as part of which hematologic disorder?
Diamond-Blackfan syndrome
When should you test Glucose 6-phosphate dehydrogenase activity?
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
When should you test Glucose 6-phosphate dehydrogenase activity?
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
Name the disorder: microcytic, hypochromic anemia, frontal bossing, maxillary hyperplasia, growth retardation, hepatosplenomegaly, jaundice
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
True or False. G6PD deficiency is more common in African Americans than in Mediterraneans.
False, Mediterraneans > African Americans.
True or False. G6PD deficiency is more common in African Americans than in Mediterraneans.
False, Mediterraneans > African Americans.
What is a mixing study?
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.
What is the definition of neutropenia?
ANC <1500:
Mild if ANC 1000-1500
Moderate ANC 500-1000
Severe ANC< 500
What is the definition of neutropenia?
ANC <1500:
Mild if ANC 1000-1500
Moderate ANC 500-1000
Severe ANC< 500
Name the disorder: large platelets, poor clot formation with prolonged bleeding time, prolonged aPTT.
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.
True or false. Parvovirus B19 infection commonly causes pancytopenia.
False. Usually just severe aplastic anemia.
Differential diagnosis for pancytopenia.
Acute leukemia or acute aplastic crisis due to bone marrow suppression.
Name the likely associated disorder: bone within bone reflecting old and new cortex, history of recurrent osteomyelitis.
Sickle cell disease.
Name the likely associated disorder: bone within bone reflecting old and new cortex, history of recurrent osteomyelitis.
Sickle cell disease.
Name the disorder: dysmorphic facies, horseshoe kidney, short stature, hyperpigmentation in intertriginous areas, multiple cafe-au-lait spots, pancytopenia, thumb or radius anomalies
Fanconi anemia
What malignancy are patients with Fanconi anemia at risk for having?
AML
Hemoglobin A? A2? F?
A: a2b2
A2: a2d2 (seen in beta-thalassemia)
F: a2g2
What labs are sensitive early signs of liver failure?
Low factor V (factor VIII is not made exclusively in the liver), albumin, and prolonged PT.
What labs are sensitive early signs of liver failure?
Low factor V (factor VIII is not made exclusively in the liver) and albumin.
Kostmann Syndrome
Neutropenia with myeloid arrest that is resistant to granulocyte stimulating factor.
Goat’s milk consumption is associated with anemia secondary to deficiency of what?
Folic acid
Goat’s milk consumption is associated with anemia secondary to deficiency of what?
Folic acid
Spooning deformity of the nails is associated with what deficiency? What is the scientific name for this phenomenon?
Iron deficiency
Koilonychia
What physiologically occurs in Factor V Leiden?
Point mutation in Factor V renders factor V resistance to cleavage by protein C– therefore protein C resistant.
When do you start supplementing iron?
Iron stores deplete around 4 months of age for term infants and around 2 weeks to 2 months for premature infants.
