Sideroblastic Anemias Clinical Presentation

Updated: Nov 18, 2015
  • Author: Muhammad A Mir, MD, FACP; Chief Editor: Emmanuel C Besa, MD  more...
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Presentation

History

The following clinical history features are suggestive of sideroblastic anemia:

  • Incoordination (cerebellar symptoms)
  • Failure of growth
  • Diarrhea (malabsorption)
  • Polyuria, blindness, deafness (associated with DIDMOAD syndrome)
  • 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 [62]
  • 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.

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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)
  • Eyes - Optic atrophy (associated with DIDMOAD 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
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