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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Sideroblastic anemia pyridoxine-refractory autosomal recessive


Other Names for this Disease

  • Pyridoxine refractory sideroblastic anemia
  • RARS
  • Refractory anemia with ringed sideroblasts
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Symptoms

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What are the signs and symptoms of sideroblastic anemia pyridoxine-refractory autosomal recessive?

The symptoms of sideroblastic anemia are the same as for any anemia and iron overload.[1] These may include fatigue, weakness, palpitations, shortness of breath, headaches, irritability, and chest pain.[1][2] Physical findings may include pallor, tachycardia, hepatosplenomegaly, S3 gallop, jugular vein distension, and rales.[1] Some people with sideroblastic anemia develop diabetes or abnormal glucose tolerance which may or may not be related to the degree of iron overload. The most dangerous complication of iron overload are heart arrhythmias and heart failure, which usually occur late in the course of the disease.[3] In severely affected children, growth and development may be affected.[3]

In sideroblastic anemia pyridoxine-refractory autosomal recessive the anemia generally remains stable over many years[3]. However, in some individuals there is an unexplained progression of the anemia over time.[3]

Last updated: 10/28/2011

The Human Phenotype Ontology provides the following list of signs and symptoms for Sideroblastic anemia pyridoxine-refractory autosomal recessive. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms.

Signs and Symptoms Approximate number of patients (when available)
Anemia -
Autosomal recessive inheritance -
Heterogeneous -
Increased serum ferritin -
Infantile onset -

Last updated: 9/2/2014

The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature.

The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined.

Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.


References
  1. Ferri F. Anemia, Sideroblastic. Ferri's Clinical Advisor 2010, 1st ed. . Elsevier; 2009;
  2. Anemias, Sideroblastic. National Organization for Rare Disorders (NORD). 2007; http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Anemias%2C%20Sideroblastic. Accessed 12/9/2009.
  3. Bottomley SS, Schrier SL. Clinical aspects, diagnosis, and treatment of sideroblastic anemias. In: Basow, DS. UpToDate. Waltham, MA: UpToDate; 2011;


Other Names for this Disease
  • Pyridoxine refractory sideroblastic anemia
  • RARS
  • Refractory anemia with ringed sideroblasts
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.