11. Hypoproliferative Disorders Flashcards
Rare disorders characterized by pancytopenia in the peripheral circulation
Aplastic anemia
Most cases of aplastic anemia is
Acquired; majority of which are idiopathic
3 cases of inherited aplastic anemia
- Fanconi’s anemia
- Dyskeratosis congenita
- Shwachmann-Diamond syndrome
Inherited aplastic anemia; chromosome are susceptible to damage and the cell may not be able to repair DNA damage
Fanconi’s anemia
Inherited aplastic anemia; cells show accelerated telomere shortening and apoptosis
Fanconi’s anemia
Most common mutation in Fanconi’s anemia; autosomal recessive
FANCA mutations
The only Fanconi’s anemia mutation that is X-linked
FANCB
Inherited aplastic anemia; chromosomes have short telomeres
Dyskeratosis congenita
Inherited aplastic anemia; patients may show abnormalities in skin pigmentation and nails
Dyskeratosis congenita
Inheritance patterns of dyskeratosis congenita
Autosomal dominant
Autosomal recessive
X-linked recessive
Inherited aplastic anemia; autosomal recessive disorder leading to neutropenia and/or anemia and thrombocytopenia
Shwachmann-Diamond syndrome
Inherited aplastic anemia; patients have decreased liver enzymes, skeletal anomalies, and increased risk of infection
Shwachmann-Diamond syndrome
Inheritance pattern of Shwachmann-Diamond syndrome
Autosomal recessive
RBC morphology seen in aplastic anemia
Normocytic/normochromic
Cellularity of bone marrow in aplastic anemia
Hypocellular with increased fat cells
Bone marrow exhibits decreased production of RBCs and RBC precursors
Pure Red Cell Aplasia (PRCA)
Acquired PRCA seen in children, often related to viral infection
Transient erythroblastopenia of childhood (TEC)
3 cases of congenital PRCA
- Diamond-Blackfan anemia
- congenital dyserythropoietic anemia (CDA)
- anemia of chronic kidney disease
Congenital PRCA; autosomal dominant, patients have physical issues including bone malformations
Diamond-Blackfan anemia
Congenital PRCA; leads to ineffective erythropoiesis; autosomal recessive
Congenital dyserythropoietic anemia (CDA)
Congenital PRCA; individuals are unable to produce erythropoietin
Anemia of chronic kidney disease
Decreased or absent production of hematopoietic cells in the bone marrow
Hypoproliferative disorders
