DISEASE SCANNER

Global Incurable Diseases Tracker

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Hematologic Disorder

Congenital Dyserythropoietic Anemia (CDA)

HIGH SEVERITY

Rare inherited blood disorder characterized by ineffective erythropoiesis, leading to anemia, iron overload, and characteristic bone marrow abnormalities. Three main types with type I and II being most common.

Global Affected

25.0K

Countries

15

Symptoms

Chronic anemia
Jaundice
Splenomegaly
Hepatomegaly
Iron overload
Gallstones
Skeletal abnormalities (type I)

Treatment Options

Red blood cell transfusions
Iron chelation therapy
Interferon alpha-2a (Type I)
Splenectomy
Allogeneic stem cell transplant
Folic acid supplementation

Risk Factors

1Autosomal recessive inheritance
2Consanguinity
3Family history

Diagnostic Methods

  • 1Complete blood count
  • 2Peripheral blood smear
  • 3Bone marrow examination
  • 4Serum ferritin
  • 5Genetic testing
  • 6Electron microscopy of bone marrow

Prognosis

Variable depending on type and severity. Type I: moderate anemia, transfusions often not needed. Type II: more severe, may require regular transfusions. Iron overload is major complication requiring lifelong chelation. Splenectomy can reduce transfusion needs by 50%. Stem cell transplant curative but risky. Life expectancy reduced without proper iron management.

Prevention

  • Genetic counseling
  • Prenatal diagnosis
  • Family screening
  • Early iron monitoring

Research Status

Supportive care with transfusions as needed. Interferon alpha-2a for CDA type I. Splenectomy may reduce transfusion requirements. Iron chelation essential. Allogeneic stem cell transplant curative option.

Sources

  • https://www.ncbi.nlm.nih.gov/books/NBK194415
  • https://www.hematology.org
  • https://rarediseases.org

Medical Disclaimer

This information is for educational purposes only. Always consult healthcare professionals for medical advice, diagnosis, and treatment.