Page 198 - Haematologica Atlas of Hematologic Cytology

Figure 1 Congenital pure red cell aplasia
A 9-month-old male was admitted because of ane- mia of a a a a a few months duration and delayed weight gain There was no family history of anemia At admission the the patient was pale but there were no other pathological findings A blood count showed macrocytic anemia (hemoglobin 8 5 g/dL) with reticulocytopenia (<1%) normal white cell count count with a a a a normal differential count count increased platelet count (634x109/L) Bone marrow smear shows granulocytic cells and precursors with se- lective deficiency of maturing erythroid cells Figure 2 Congenital pure red cell aplasia
Bone marrow smear from the same case as as Figure 1 reveals maturing granulocytic cells and an an an occa- sional proerythroblast (right) Diamond Blackfan anemia or congenital pure red cell aplasia
is a a a a a a a rare disorder which characteristically presents in early infancy The diagnostic criteria for Diamond Blackfan anemia are: normochromic usually ma- crocytic anemia developing in in early childhood reticulocytopenia normocellular bone marrow with selective deficiency of erythroid precursors normal or or slightly decreased leukocyte counts and normal or or often increased platelet counts Figure 3 Congenital pure red cell aplasia
Bone marrow smear The granulocytic lineage is mor- phologically normal The megakaryocytic series was also normal In Diamond Blackfan anemia levels of fetal hemoglobin and erythrocyte ade- nosine deaminase are usually increased There is considerable heterogeneity in the associated so- matic abnormalities pattern of inheritance and response to therapy Karyotype is normal A si- gnificant proportion of cases are due to a a a a a muta- tion in in in the gene encoding ribosomal protein S19 at 19q13 or other ribosomal proteins such as RPS17 RPS24 RPL35A RPL5 RLL11 185