40 Hereditary Dyserthropoietic Anemias

Question 1

A heterogeneous group of disorders characterized by anemia, ineffective erythropoiesis with specific morphologic alterations of erythroid precursors in the marrow, and iron overload

Answer 1

Congenital dyserythropoietic anemias (CDAs)

Question 2

The only CDA that is autosomal
dominant

Answer 2

CDA III

Question 3

Gene involved:

CDA I:
CDA II:
CDA III:

Answer 3

CDA I:CDAN1–CDIN1
CDA II: SEC23B
CDA III: KIF23

Question 4

Main clinical features:
CDA I

Answer 4

• Severe or moderate anemia, generally macrocytic, with relative reticulocytopenia
• Congenital anomalies: skeletal abnormalities typically affecting hands and feet, chest deformity, and short stature

Question 5

Main clinical features:
CDA II

Answer 5

• Normocytic anemia of variable degrees, with normal or slightly increased reticulocyte counts;
• Jaundice and splenomegaly

Question 6

Main clinical features:
CDA III

Answer 6

• Absent or moderate normocytic anemia, slight relative reticulocytopenia, jaundice, hemolysis; visual disturbances, with macular degeneration, angioid streaks, and monoclonal gammopathy

Most patients are asymptomatic

Question 7

Bone Marrow Morphologic Features:

CDA I:
CDA II:
CDA III:

Answer 7

CDA I: Erythroid hyperplasia with binucleate late erythroblasts (2%–10%); internuclear chromatin bridges (1%–8%); “Swiss cheese” appearance of the heterochromatin

CDA II: Erythroid hyperplasia with binucleate
cells (>10%) , the mature erythroblasts show a discontinuous double membrane

CDA III: giant multinucleate erythroblasts (gigantoblasts), clefts within heterochromatin, autophagic vacuoles, iron-laden mitochondria, and myelin figures in the cytoplasm

Question 8

Other name for CDA II

Answer 8

HEMPAS for hereditary erythroblastic multinuclearity associated with a positive acidified serum test

Question 9

Which CDA requires no treatment

Answer 9

CDA III