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SIDEROBLASTIC ANEMIA, IRON OVERLOAD (Hemochromatosis) - Coggle Diagram

- - - - X-linked sideroblastic anemia (XLSA)
      - Autosomal recessive pyridoxine-refractory sideroblastic anemia
- - - - Contaminated air, water, soil, food, and consumer products
    - - Hypochromic RBC, hemolytic anemia
      - Basophilic stippling
  - - - Inhibit ALAS2 activity
      - Inhibit activity of urophyrinogen decarboxylase and ferrochelatase
      - Direct effect on folate metabolism, absorption, storage and release
- - - - autosomal recessive
      - Defective HFE
    - - Juvenile hemochromatosis
      - Mutations in hemojuvelin (HJV) gene
    - - Mutations in hepcidin gene (HAMP)
    - - Mutations in TfR2 gene
    - - Mutations in ferroportin gene
  - - - Dyserythropoiesis-related iron overload
    - - Transfusional Fe overload
      - Fe overload due to excessive supplementation