Heme

Question 1

Pappenheimer bodies - dark blue cytoplasmic inclusions of iron in periphery of cell.

Answer 1

Sideroblastic Anemia

Question 2

Point mutation in 6th codon of beta globin gene on short arm of chromosome 11

Answer 2

Sickle Cell Disease

Question 3

Heinz bodies on peripheral smear - removal of these can lead to bite cells

Answer 3

G6PD deficiency

Question 4

Structural or functional abnormality of cytostekeltal proteins, spectrin, anykyrin

Answer 4

Hereditary Spherocytosis

Question 5

Chronic hemolytic anemia, jaundice, reticulocystosis and splenomegaly

Answer 5

Hereditary Spherocytosis

Question 6

Short stature, skeletal abnormalities (including absent or abnormal thumbs, abnormal radii, microcephaly and vertebral abn), cafe au lait spots, hyperpigmentation or hypopigmentation and renal anomalies

Answer 6

Fanconi Anemia

Question 7

Macrocytic anemia without other cytopenias. Poor DNA repair mechanisms

Answer 7

Fanconi Anemia

Question 8

Acquired, self-limited between 1-3 yo with pallor and decreased acitiviyt. No organomegaly or petechiae. Normocytic anemia and reticulocytopenia but no other cytopenias

Answer 8

Transient erythroblastopenia of childhood

Question 9

Macrocytic anemia and reticulocytopenia without other cytopenias. 1/3 have congenital deformities (thumb anomalies, dysmorphic features - snub nose, thick upper lip, wide set eyes, short stature, glaucoma, renal anomalies, hypogonadism, short webbed neck, congenital heart disease and ID

Answer 9

Diamond Blackfan Anemia

Question 10

3 pure red cell aplasias

Answer 10

parvovirus B19, TEC, and diamond Blackfan

Question 11

Neutropenia every 21 +/-3 days. Wither fevers, aphthous ulcers, pharyngitis, cervical lymphadenitis during neutropenia periods.

Answer 11

Cyclic Neutropenia

Question 12

Bacterial sepsis cyclic neutropenia is particularly at risk for

Answer 12

Clostridium septicum

Question 13

Neutropenia with ANC <200 with monocytosis and eosinophilia

Answer 13

Kostman syndrome

Question 14

Gene mutation in kostmann syndrome

Answer 14

ELA2 and HAX1

Question 15

Failure to thrive, steatorrhea due to pancreatic insuffiency and recurrent infections. Neutropenia and metaphyseal dysostoses

Answer 15

Schwachman-Diamond

Question 16

Persistent low ANC in otherwise health children. Lasts about 2 years

Answer 16

Chronic benign neutropenia

Question 17

Caused by autoantibodies to granulocytes

Answer 17

Chronic benign neutropenia

Question 18

Severe thrombocytopenia and microthrombocytes that can present in neonatal period. Often with eczema and immunodeficiency

Answer 18

Wiskott-Aldrich

Question 19

Bleeding in the neonate. Severe thrombocytopenia. Also no radii (normal thumbs). Hypoplastic carpals and phalanges, syndactyly, clinodcatyly and phocomelia. Hip dysplasia, fem/tibial torsion. Dysmoprhic face (micrognathia, hypertelorism and low set ears. Can have ASD/VSD/TOF

Answer 19

Thrombocytopenia absent radius syndrome

Question 20

Megathrombocytes and rare platelets seen on peripheral smear

Answer 20

Immune thrombocytopenia

Question 21

Destruction of platelets in certain vascular tumors of the skin, liver or spleen

Answer 21

Kasabach-Merritt phenomenon

Question 22

Helps platlets stick to exposed subendothelium and to other platlets. Carrier protein for factor 8

Answer 22

Von Willebrand factor

Question 23

Mild thrombocytopenia and giant abnormal platelets taht do not aggregate in repsonse to ristocetin but do aggregate in response to ADP, epinephrine or collagen

Answer 23

Bernard-Soulier

Question 24

Seen on peripheral smear in microangiopathic hemolytic anemia (TTP, HUS, HELLP, DIC), severe burns, and valve hemolysis

Answer 24

Schistocytes

Question 25

Seen on peripheral smear in autoimmune hemolytic anemia and hereditary spherocytosis

Answer 25

Spherocytes

Question 26

Seen on peripheral smear in liver disease, thalassemia syndromes, sickle cell disease, homozygous hemoglobin C and other hemoglobinopathies

Answer 26

Target Cells

Question 27

Seen on peripheral smear in myelofibrosis and other infiltrating bone marrow processes; also in thalassemia

Answer 27

Tear drop cells (dacrocytes)

Question 28

Seen on peripheral smear in uremic patients.

Answer 28

Burr cells

Question 29

Seen on peripheral smears in liver diseases

Answer 29

Spur cells

Question 30

Seen on peripheral smear in B12 and folate deficiency

Answer 30

Hypersegmented PMNs

Question 31

Seen on peripheral smear in herediatry elliptocytosis and severe iron deficiency

Answer 31

Elliptocytes

Question 32

Seen on peripheral smear in splenectomy of functional asplenia

Answer 32

Howell-Jolly bodies. They are nuclear remnants usually removed by the spleen

Question 33

Seen on peripheral smear in lead poisoning, thalassemia, pyrimidine 5'-nucleotidase deficiency

Answer 33

basophilic stippling

Question 34

Seen on peripheral smear in G6PD deficiency, thalassemia, unstable hemoglobin variants

Answer 34

Heinz bodies - indicates oxidative damage

Question 35

Asymptomatic. Mild anemia with disproportionate degree of microcytosis. Normal RDW

Answer 35

Beta thal minor

Question 36

Pallor, irritability, growth retardation, hepatosplenomegaly, profound anemia, jaundice and extramedullary hematopoiesis leading to frontal bossing and prominent malar eminences by 6-12 months of age

Answer 36

Beta thal major

Question 37

When do infants need iron supplementation

Answer 37

when primary intake is breast milk - supplement starting at 4 months of age for full term (1-2 months for preterm).