Sideroblastic Anemias Clinical Presentation

Updated: Sep 10, 2019
  • Author: Muhammad A Mir, MD, FACP; Chief Editor: Emmanuel C Besa, MD  more...
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The following clinical history features are suggestive of sideroblastic anemia:

  • Incoordination (cerebellar symptoms)
  • Failure of growth
  • Diarrhea (malabsorption)
  • History of exposure to cold for prolonged periods
  • Family history of mitochondrial disease and anemia
  • Medication history of antibiotics, antituberculous agents, chelators, or chemotherapy
  • Ingestion of supplements, especially zinc
  • Prolonged dependence on parenteral nutrition, with insufficient replacement of copper
  • Chronic dialysis with higher than normal zinc levels in dialysis fluid
  • Psychiatric disease with possible coin ingestion [60]
  • Alcoholism
  • Exposure to lead, such as via pipes in older houses
  • History of myelodysplastic syndrome
  • General symptoms of anemia, including malaise, fatigue, and dyspnea on exertion

Complications of sideroblastic anemia include acute leukemia and secondary hemochromatosis with transfusion therapy.


Physical Examination

The following physical examination features are suggestive of sideroblastic anemia:

  • General - Growth retardation in children
  • Vital signs - Hypothermia
  • Oral - Lead line on teeth margins
  • Skin - Photosensitivity (porphyria), petechiae (myelodysplastic syndrome)
  • Neurologic - Ataxia, diminished deep-tendon reflexes, incoordination
  • Cardiovascular - Fatigue
  • Respiratory - Dyspnea
  • Abdominal - Splenomegaly
  • Musculoskeletal - Muscular weakness
  • Genitourinary - Pink staining of diapers from porphyrins in urine