11. Hypoproliferative Disorders

Question 1

Rare disorders characterized by pancytopenia in the peripheral circulation

Answer 1

Aplastic anemia

Question 2

Most cases of aplastic anemia is

Answer 2

Acquired; majority of which are idiopathic

Question 3

3 cases of inherited aplastic anemia

Answer 3

• Fanconi’s anemia
• Dyskeratosis congenita
• Shwachmann-Diamond syndrome

Question 4

Inherited aplastic anemia; chromosome are susceptible to damage and the cell may not be able to repair DNA damage

Answer 4

Fanconi’s anemia

Question 5

Inherited aplastic anemia; cells show accelerated telomere shortening and apoptosis

Answer 5

Fanconi’s anemia

Question 6

Most common mutation in Fanconi’s anemia; autosomal recessive

Answer 6

FANCA mutations

Question 7

The only Fanconi’s anemia mutation that is X-linked

Answer 7

FANCB

Question 8

Inherited aplastic anemia; chromosomes have short telomeres

Answer 8

Dyskeratosis congenita

Question 9

Inherited aplastic anemia; patients may show abnormalities in skin pigmentation and nails

Answer 9

Dyskeratosis congenita

Question 10

Inheritance patterns of dyskeratosis congenita

Answer 10

Autosomal dominant
Autosomal recessive
X-linked recessive

Question 11

Inherited aplastic anemia; autosomal recessive disorder leading to neutropenia and/or anemia and thrombocytopenia

Answer 11

Shwachmann-Diamond syndrome

Question 12

Inherited aplastic anemia; patients have decreased liver enzymes, skeletal anomalies, and increased risk of infection

Answer 12

Shwachmann-Diamond syndrome

Question 13

Inheritance pattern of Shwachmann-Diamond syndrome

Answer 13

Autosomal recessive

Question 14

RBC morphology seen in aplastic anemia

Answer 14

Normocytic/normochromic

Question 15

Cellularity of bone marrow in aplastic anemia

Answer 15

Hypocellular with increased fat cells

Question 16

Bone marrow exhibits decreased production of RBCs and RBC precursors

Answer 16

Pure Red Cell Aplasia (PRCA)

Question 17

Acquired PRCA seen in children, often related to viral infection

Answer 17

Transient erythroblastopenia of childhood (TEC)

Question 18

3 cases of congenital PRCA

Answer 18

• Diamond-Blackfan anemia
• congenital dyserythropoietic anemia (CDA)
• anemia of chronic kidney disease

Question 19

Congenital PRCA; autosomal dominant, patients have physical issues including bone malformations

Answer 19

Diamond-Blackfan anemia

Question 20

Congenital PRCA; leads to ineffective erythropoiesis; autosomal recessive

Answer 20

Congenital dyserythropoietic anemia (CDA)

Question 21

Congenital PRCA; individuals are unable to produce erythropoietin

Answer 21

Anemia of chronic kidney disease

Question 22

Decreased or absent production of hematopoietic cells in the bone marrow

Answer 22

Hypoproliferative disorders