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Congenital Dyserythropoietic Anemias

Congenital Dyserythropoietic Anemias (CDAs) are rare inherited anemias with common features like mild to moderate anemia, ineffective erythropoiesis, increased iron turnover, and abnormalities in mature erythrocytes. There are three major types of CDAs with specific features for each. Management involves monitoring for iron overload, considering iron chelation therapy, and genetic counseling.

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Congenital Dyserythropoietic Anemias

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  1. Congenital DyserythropoieticAnemias

  2. FEATURES COMMON TO ALL CDAs • The congenital dyserythropoietic anemias (CDAs) are a group of relatively rare inherited anemias that share common features:

  3. FEATURES COMMON TO ALL CDAs • Anemia: • mild to moderate (Hb = 8-11 g/dl). • Normocytic or macrocyticindicies are typical.

  4. FEATURES COMMON TO ALL CDAs • Ineffective erythropoiesis: • The red cell half life is decreased to a variable extent in these disorders. • Granulopoiesis and thrombopoiesis are generally unremarkable

  5. FEATURES COMMON TO ALL CDAs • Iron overload: • Increased plasma iron turnover. • Shortened half-life of plasma iron clearance.

  6. FEATURES COMMON TO ALL CDAs • Multineucliarerythroid cells in B.M.

  7. FEATURES COMMON TO ALL CDAs • Abnormalities of mature erythrocytes, including anisocytosis, poikilocytosis, and anisochromasia can be pronounced. • Reticulocytes are usually normal or slightly increased in number

  8. FEATURES COMMON TO ALL CDAs • Three major types of CDA and a number of variants have been described. • The diagnosis and categorization of these disorders are facilitated by microscopic examination of the blood and bone marrow and by serologic testing.

  9. SPECIFIC FEATURES OF CDA I • AR, Codanin-1 • Manifests in early infancy, childhood & sometimes adolesance . • mild to moderate macrocytic anemia Hct 30%

  10. SPECIFIC FEATURES OF CDA I • Mild hyperbillirubinemia. • Splenomegaly.

  11. SPECIFIC FEATURES OF CDA I • Hypercellularerythroid marrow with megaloblastoid features: 1- v. Large cells containing an irregular nuclear mass with 2 segments. 2- Double nucleated cells. 3- Pairs of erythroblasts connected by a chromatin bridge.

  12. SPECIFIC FEATURES OF CDA I • E.M: A- multiple nuclear membrane pores. B- uneven condensation of chromatin, leading to a “spongy” nuclear configuration (characteristic)

  13. lnternuclear bridge

  14. Spongy chromatin appearance

  15. SPECIFIC FEATURES OF CDA II • HEMPAS (hereditary erythroblastic multinuclearity with positive acidified serum lysis test). • Most common type.

  16. SPECIFIC FEATURES OF CDA II • AR, Defect in the surface membrane gluco-conjugated proteins (chrom. 20) • (N-acetyl-glucosaminyl-transferase II) • (alpha-mannosidase II) • Mean age of presentation 5y.

  17. SPECIFIC FEATURES OF CDA II • Mild to severe anaemia (variable) • Splenomegaly & Jaundice are more prominent. • Iron overload is the most serious complication. • Hepatomegaly.

  18. SPECIFIC FEATURES OF CDA II • +ve acidified serum test • Not to its own serum (+ve to ABO comp. Serum) • Succ. Lysis test –ve. • Anti-i and anti-I agglutinability +ve.

  19. multinucleated erythroblasts

  20. SPECIFIC FEATURES OF CDA III • AD, chrom 15 • Usually asymptomatic. • Absent or minimal anemia. • N or minimal splenomegaly.

  21. SPECIFIC FEATURES OF CDA III • Giant erythroblasts with upto 12 nuclei • E.M. Clefts in nuclei, autolytic areas in cytoplasm

  22. Multiple nuclei in an erythroblast

  23. Multiple nuclei in an erythroblast

  24. Management • Anemia is often mild and requires no intervention. • Blood transfusion should be avoided unless necessary. • Splenectomy may be of benefit (CDA II).

  25. Management • Patients should be routinely monitored for evidence of iron overload • Iron chelation therapy should be considered in the management of these patients after documentation of tissue iron overload.

  26. Management • Identify family members. • Genetic counseling.

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