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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