Congenital Dyserythropoiesis (Schalm 31)

Question 1

What are 5 congenital conditions associated with dysplastic features in RBC’s and bone marrow?

Answer 1

1) Poodle macrocytosis
2) inherited selective malabsorption of cobalamin
3) Congenital dyserythropoiesis, polymyopathy, and cardiac disease in English Springer Spaniels
4) hereditary stomatocytosis in Alaskan Malamutes
5) Congenital anemia, dyskeratosis, and progressive alopecia in polled Hereford calves

Question 2

Bone marrow failure syndromes are often effected by ribosomal mutations that affect what pathway?

Answer 2

P53 signaling pathway, resulting in p53 dependent cell cycle arrest and apoptosis

Question 3

What are hematologic features of Poodle macrocytosis?

Answer 3

1) Macrocytosis (85-105fL)
2) Metarubricytosis, sometimes with nuclear-cytoplasmic asynchrony
3) Increased Howell-Jolly bodies (often large and multiple)
4) Bone marrow dyserythropoiesis

Question 4

What unique feature is seen in dyserythropoesis due to Poodle macrocytosis?

Answer 4

Nuclear bridging

Question 5

Inherited selective malabsorption of cobalamin has been identified in what breeds?

Answer 5

Giant Schnauzers
Border Collies
1 beagle, 1 cat