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From Wickramasinghe SN. Dyserythropoiesis and congenital dyserythropoietic anemias. Br J Haematol 1997;98:785-97, with permission.

From Wickramasinghe SN. Dyserythropoiesis and congenital dyserythropoietic anemias. Br J Haematol 1997;98:785-97, with permission.

Table 6-8. Diagnostic Tests for Congenital Dyserythropoietic Anemia

Complete blood count, including MCV, red cell distribution width (RDW), blood smear examination Absolute reticulocyte count

Quantitative light and if needed electron microscope analysis of the bone marrow Serum vitamin B12 and red cell folate measurements Parvovirus B19 Serum bilirubin levels

Hemoglobin (Hb) electrophoresis: Hb A2, Hb F assays

Red cell enzyme assays (pyruvate kinase, glucose-6-phosphate dehydrogenase)

SDS polyacrylamide gel electrophoresis of red cell membranes

Acidified serum lysis test

Sucrose lysis test

Serum ferritin level

Test for urinary hemosiderin

Cytogenetic studies of bone marrow cells

Mutation analysis for known CDA genes

Studies of globin chain synthesis

Studies of globin gene analysis

Abbreviation: SDS, sodium dodecyl sulfate.

• Prophylactic phlebotomy when the hemoglobin level permits and/or deferoxamine (newer oral iron chelators when available) iron chelation should be administered to ameliorate the effects of iron overload.

• Folic acid, 1 mg per week, should be administered. Iron therapy is contraindi-cated.

• Vitamin E has been used in the treatment of CDA type II, with an apparent improvement in red cell survival and a reduction in serum bilirubin and reticu-locyte count.

• Recombinant a-interferon 2a has been used in CDA type I, resulting in an increase in hemoglobin level, a decrease in MCV and red cell distribution width (RDW), a reduction in serum bilirubin and lactic dehydrogenase (LDH) levels, an improvement in morphology of erythroblasts, and a reduction in ineffective erythropoiesis.

• Successful stem cell transplant has been performed in type I CDA.

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