Sideroblastic anemia physical examination

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Shyam Patel [2] Associate Editor(s)-in-Chief: Nazia Fuad M.D.

Overview

Patients usually presents with signs of anemia with pale skin, dyspnea, and tachycardia. Growth retardation is seen in children. Other signs include hypothermia, lead line on teeth margins, photosensitivity, petechiae, optic atrophy, ataxia, and incoordination. Hepatosplenomegaly is common patients with iron overload.

Physical Examination

Patients with sideroblastic anemia may exibit following signs.[1]

Appearance of the Patient

  • Patients with sideroblastic anemia usually appear pale
  • Growth retardation in children

Vital Signs

Skin

HEENT

  • HEENT examination of patients with sideroblastic anemia is usually normal except:
    • Oral - Lead line on teeth margins
    • Eyes - Optic atrophy (associated with DIDMOAD syndrome)

Neck

Lungs

Heart

Abdomen

Back

  • Back examination of patients with sideroblastic anemia is usually normal

Genitourinary

  • Genitourinary examination of patients with sideroblastic anemia is usually normal except:
    • Pink staining of diapers in childrens from porphyrins in urine

Neuromuscular

Extremities

  • Extremities examination of patients with sideroblastic anemia is usually normal

References

  1. Cazzola M, Malcovati L (2015). "Diagnosis and treatment of sideroblastic anemias: from defective heme synthesis to abnormal RNA splicing". Hematology Am Soc Hematol Educ Program. 2015: 19–25. doi:10.1182/asheducation-2015.1.19. PMID 26637696.

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