Disorders

Question 1

Chédiak-Higashi syndrome

Answer 1

Autosomal recessive
Large, gray-green peroxidase-pos granules in PMNs
WBC’s unable to degranulate and kill bacteria
Present with photophobia and skin hypopigmentation
Fatal early in life

Question 2

Hypersegmentation of PMNs

Answer 2

5 or more lobes

Megaloblastic anemia due to vitamin B12 or folate deficiency

Question 3

Pelger-Huët anomaly

Answer 3

Autosomal dominant
Bi-lobed, dumbbell or peanut shaped
Functionally normal

Question 4

Pseudo Pelger-Huët

Answer 4

Can be drug induced or myeloproliferative/myelodysplastic syndromes
Usually round instead of dumbbell, seen with hypogranulation

Question 5

May-Heflin anomaly

Answer 5

Autosomal dominant
Döhle-like inclusions, gray-blue and spindle/cigar shaped
Functionally normal

Giant platelets, thrombocytopenia, clinical bleeding

Question 6

Alder-Reilly anomaly

Answer 6

Autosomal recessive
Large azurophilic granules in all or only one cell line
Functionally normal

Question 7

Multiple myeloma

Answer 7

B cell production of excessive IgG, decrease in other immunoglobulins
Skeletal system tumors/lesions, hypercalcemia, increased blood viscosity, prolonged bleeding, Bence Jones protein in urine
Rouleaux, increased ESR

Question 8

Waldenström macroglobulinemia

Answer 8

B cell production of excessive IgM, decreased others
Lymphadenopathy, hepatosplenomegaly, increased blood viscosity
Rouleaux, increased ESR

Question 9

Hodgkin lymphoma

Answer 9

40% of lymphomas
Reed-Sternberg cells in lymph biopsies, more often males
Anemia, eosinophilia, monocytosis, increased LAP, increased ESR

Question 10

Non-Hodgkin lymphoma

Answer 10

60% of lymphomas, more often in males, usually over 50

Enlarged lymph’s and GI tumors, B cell neoplasms, slow or aggressive

Question 11

Essential thrombocythemia

Answer 11

Proliferation of megakaryocytes

Adults over 60, platelets greater than 1000x10^9

Question 12

Polycythemia Vera

Answer 12

Increase in all cell lines (RBC’s most even with decreased erythropoietin)
High blood viscosity (high blood pressure, stroke, heart attack)
Treat with phlebotomy

Question 13

Secondary polycythemia

Answer 13

Increased RBC due to increase erythropoietin or tissue hypoxia (plasma, leukocytes, and platelets all normal)

Question 14

Pseudo-polycythemia

Answer 14

Decreased plasma volume with normal RBC amount caused by dehydration
Increased Hgb
Normal leukocyte, platelet, and erythropoietin

Question 15

Iron-deficiency anemia

Answer 15

Low Hgb, Hct, RBC’s, and reticulocytes
High RDW
Ovalocytes

Question 16

Anemia of chronic disease

Answer 16

Inability to use available iron for Hgb production

Increased ESR, normocytic/microcytic normochromic

Question 17

Sideroblastic anemia

Answer 17

Blocks in protoporphyrin pathway, defective Hgb synthesis, iron overload
Ringed sideroblasts, sideocytes, Pappenheimer bodies, microcytic hypochromic

Question 18

Lead poisoning

Answer 18

Blocks in protoporphyrin pathway affecting heme synthesis

Normocytic normochromic with basophilic stippling

Question 19

Porphyria

Answer 19

Inherited block in protoporphyrin pathway

Question 20

Megaloblastic anemia

Answer 20

Defective DNA synthesis (lack of Vitamin B12 or folate)
Macrocytic normochromic, hypersegmented PMNs, Howell-Jolly bodies, nRBCs, basophilic stippling, Pappenheimer bodies, Cabot rings

B12 deficiency has CNS involvement, folate deficiency has no CNS involvement

Question 21

Pernicious anemia

Answer 21

Deficiency of intrinsic factor, GI issues, megaloblastic anemia

Question 22

Fanconi anemia

Answer 22

Genetic aplastic anemia, autosomal recessive, seen with ALL, normocytic normochromic, no response to erythropoietin

Question 23

G6PD deficiency

Answer 23

Sex linked enzyme defect
Oxidized Hgb to methemoglobin, denatures to Heinz bodies
Usually fine until oxidatively challenged

Question 24

Pyruvate kinase deficiency

Answer 24

Autosomal recessive

Reduces life span of RBCs, hemolytic anemias with reticulocytosis and echinocytes

Question 25

Paroxysmal nocturnal hemoglobinuria (PNH)

Answer 25

Acquired membrane defect in RBC, increased sensitivity for complement binding
Pancytopenia, intravascular hemolysis, hemoglobinuria, low LAP, increased acute leukemia
Test with flow cytometry