History

The following clinical history features are suggestive of sideroblastic anemia:

Incoordination (cerebellar symptoms)
Failure of growth
Fatigue
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
Long-term dialysis with higher than normal zinc levels in dialysis fluid
Psychiatric disease with possible coin ingestion ^[64]
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

Physical Examination

The following physical examination features are suggestive of sideroblastic anemia:

General - Growth retardation in children
Vital signs - Hypothermia, hypotension, tachycardia
Eyes - Scleral icterus
Oral - Lead line on teeth margins
Skin - Photosensitivity (porphyria), petechiae (myelodysplastic syndrome), jaundice, bronze coloring
Neurologic - Ataxia, diminished deep-tendon reflexes, incoordination
Cardiovascular - Fatigue, heart failure symptoms such as shortness of breath, jugular venous distension, orthopnea, paroxysmal nocturnal dyspnea, peripheral edema
Respiratory - Dyspnea
Abdominal - Splenomegaly, abdominal tenderness secondary to bleeding, abdominal distension, caput medusae, spider angiomata, abdominal striae
Musculoskeletal - Muscular weakness, arthralgias
Genitourinary - Pink staining of diapers from porphyrins in urine, erectile dysfunction

Complications

Any complication of anemia in general, such as bleeding, high-output heart failure, significant fatigue, and weight loss, may be seen in sideroblastic anemias. See Anemia. Complications specific to sideroblastic anemia result primarily from iron overload throughout the body's organ systems, especially the liver and rarely the heart. Iron overload is a result of ineffective erythropoiesis caused by mitochondrial iron toxicity, which increases iron absorption.^[65] Thus, patients with underlying sideroblastic anemia can present with evidence of acute liver failure or cirrhosis, due to the accumulation of iron in the liver, or heart failure due to the accumulation of iron in the heart.

Differential Diagnoses

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Media Gallery

Ring sideroblast.
Heme synthesis.
Sideroblastic anemias: etiologic classification. DIDMOAD = diabetes insipidus, diabetes mellitus, optic atrophy, deafness.
Iron and total iron-binding capacity in physiology and pathology.
Ringed sideroblast.
Heme synthesis pathway.
Normochromic vs hypochromic red blood cell (RBC).
Pappenheimer bodies seen on giemsa stain.
Basophilic stippling in lead poisoning.

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Author

Nandakumar Mohan, DO Resident Physician, Department of Internal Medicine, Einstein Medical Center Philadelphia

Disclosure: Nothing to disclose.

Coauthor(s)

Claudia M da Costa Dourado, MD Clinical Assistant Professor of Medicine, Sidney Kimmel Medical College of Thomas Jefferson University; Program Director, Hematology and Medical Oncology Fellowship Program, Attending Physician, Division of Hematology and Medical Oncology, Department of Medicine, Einstein Medical Center Philadelphia

Claudia M da Costa Dourado, MD is a member of the following medical societies: American Society of Clinical Oncology, American Society of Hematology

Disclosure: Nothing to disclose.

Specialty Editor Board

Francisco Talavera, PharmD, PhD Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Received salary from Medscape for employment. for: Medscape.

Chief Editor

Emmanuel C Besa, MD Professor Emeritus, Department of Medicine, Division of Hematologic Malignancies and Hematopoietic Stem Cell Transplantation, Kimmel Cancer Center, Jefferson Medical College of Thomas Jefferson University

Emmanuel C Besa, MD is a member of the following medical societies: American Association for Cancer Education, American Society of Clinical Oncology, American College of Clinical Pharmacology, American Federation for Medical Research, American Society of Hematology, New York Academy of Sciences

Disclosure: Nothing to disclose.

Additional Contributors

Clarence Sarkodee Adoo, MD, FACP Consulting Staff, Department of Bone Marrow Transplantation, City of Hope Samaritan BMT Program

Clarence Sarkodee Adoo, MD, FACP is a member of the following medical societies: American College of Physicians-American Society of Internal Medicine, American Society of Hematology, American Society of Clinical Oncology

Disclosure: Nothing to disclose.

Muhammad A Mir, MD, FACP Assistant Professor of Medicine (Hematology, Blood/Marrow Transplant) Milton S Hershey Medical Center, Pennsylvania State University College of Medicine

Muhammad A Mir, MD, FACP is a member of the following medical societies: American College of Physicians, American Society of Hematology, American Society for Blood and Marrow Transplantation, American Society of Clinical Oncology

Disclosure: Nothing to disclose.

Gerald L Logue, MD Professor of Medicine, Head of the Division of Hematology, Vice Chairman for Education, Department of Medicine, University of Buffalo State University of New York School of Medicine and Biomedical Sciences

Gerald L Logue, MD is a member of the following medical societies: Alpha Omega Alpha, American Association for the Advancement of Science, American College of Physicians, American Society of Hematology, American Federation for Clinical Research

Disclosure: Nothing to disclose.

Sideroblastic Anemias Clinical Presentation

History

Physical Examination

Complications

References

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