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Sideroblastic anemia pyridoxine-refractory autosomal recessive


Other Names:
Pyridoxine refractory sideroblastic anemia; Refractory anemia with ringed sideroblasts; RARS; Pyridoxine refractory sideroblastic anemia; Refractory anemia with ringed sideroblasts; RARS; AISA; Primary acquired sideroblastic anemia; Acquired idiopathic sideroblastic anemia See More
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Sideroblastic anemia pyridoxine-refractory autosomal recessive is an inherited blood disorder that is characterized by an impaired ability of the bone marrow to produce normal red blood cells. The iron inside red blood cells is inadequately used to make hemoglobin, despite adequate or increased amounts of iron. Abnormal red blood cells called sideroblasts are found in the blood of people with this anemia.[1] It is caused by mutations in the SLC25A38 gene. It is inherited in an autosomal recessive fashion. Unlike other forms of sideroblastic anemia, this form is not responsive to vitamin B6 (pyridoxine).[2]
Last updated: 10/26/2011
The symptoms of sideroblastic anemia are the same as for any anemia and iron overload.[3] These may include fatigue, weakness, palpitations, shortness of breath, headaches, irritability, and chest pain.[3][4] Physical findings may include pallor, tachycardia, hepatosplenomegaly, S3 gallop, jugular vein distension, and rales.[3] 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.[5] In severely affected children, growth and development may be affected.[5]

In sideroblastic anemia pyridoxine-refractory autosomal recessive the anemia generally remains stable over many years[5]. However, in some individuals there is an unexplained progression of the anemia over time.[5]

Last updated: 10/28/2011

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

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Medical Terms Other Names
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HPO ID
80%-99% of people have these symptoms
Refractory anemia with ringed sideroblasts 0004828
30%-79% of people have these symptoms
Megaloblastic erythroid hyperplasia 0200143
Normochromic anemia 0001895
Normocytic anemia 0001897
Pallor 0000980
5%-29% of people have these symptoms
Abnormal fingernail morphology
Abnormal fingernails
Abnormality of the fingernails
[ more ] 		0001231
Abnormal number of granulocyte precursors 0012137
Chronic infection 0031035
Dysplastic granulopoesis 0012136
Hepatomegaly
Enlarged liver
0002240
Hypochromic anemia 0001931
Hyposegmentation of neutrophil nuclei 0011447
Splenomegaly
Increased spleen size
0001744
Thrombocytopenia
Low platelet count
0001873
1%-4% of people have these symptoms
Abnormal bleeding
Bleeding tendency
0001892
Acute myeloid leukemia 0004808
Bone marrow hypocellularity
Bone marrow failure
0005528
Congestive heart failure
Cardiac failure
Cardiac failures
Heart failure
[ more ] 		0001635
Granulocytopenia 0001913
Increased megakaryocyte count 0005513
Leukocytosis
Elevated white blood count
High white blood count
Increased blood leukocyte number
[ more ] 		0001974
Neutropenia
Low blood neutrophil count
Low neutrophil count
[ more ] 		0001875
Pancytopenia
Low blood cell count
0001876
Thrombocytosis
Increased number of platelets in blood
0001894
Percent of people who have these symptoms is not available through HPO
Autosomal recessive inheritance 0000007
Decreased mean corpuscular volume 0025066
Hypochromia 0032231
Increased serum ferritin
Elevated serum ferritin
High ferritin level
Increased ferritin
Increased serum ferritin level
[ more ] 		0003281
Infantile onset
Onset in first year of life
Onset in infancy
[ more ] 		0003593
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Last updated: 7/1/2020
Sideroblastic anemia pyridoxine-refractory autosomal recessive is caused by mutations in the SLC25A38 gene. It is inherited in an autosomal recessive fashion.[2] Click here to learn more about autosomal recessive inheritance.
Last updated: 10/28/2011
Currently there is not a cure for sideroblastic anemia pyridoxine-refractory autosomal recessive, however with proper treatment the life-expectancy of people with this anemia can be close to normal. Treatments are aimed at preventing organ damage from iron overload, and controlling symptoms of anemia. People with severe anemia may require periodic transfusions. Transfusions of red cells are kept to a minimum, to avoid accelerating iron overload.[5] Treatment of iron overload involves an iron depletion program, such as therapeutic phlebotomy or iron chelation.[5] Total splenectomy is contraindicated in this disorder.[5] This form of sideroblastic anemia is not associated with an increased risk for leukemia.[5]

A few small studies have described the use of allogenic bone marrow or stem cell transplantation for hereditary and congenital forms of sideroblastic anemia. While these therapies may offer the possibility of a cure, the complications associated with transplantation surgery must be considered.[6]

All patients with sideroblastic anemia should be followed by a hematologist and avoid alcohol.[1][3]
Last updated: 10/28/2011

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.

Conditions with similar signs and symptoms from Orphanet
RARS can be separated from other categories of MDS by the presence in the bone marrow of more than 15% of ringed sideroblasts in the erythroid cells, an absence of dysplasia in the other cell lineages and a low percentage of myeloid blasts (<5%).
Visit the Orphanet disease page for more information.

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

  • ClinicalTrials.gov lists trials that are related to Sideroblastic anemia pyridoxine-refractory autosomal recessive. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.

    Please note: Studies listed on the ClinicalTrials.gov website are listed for informational purposes only; being listed does not reflect an endorsement by GARD or the NIH. We strongly recommend that you talk with a trusted healthcare provider before choosing to participate in any clinical study.

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

In-Depth Information

  • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Sideroblastic anemia pyridoxine-refractory autosomal recessive. Click on the link to view a sample search on this topic.

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  1. Escott-Stump S. Nutrition and Diagnosis-Related Care. Lippincott Williams & Wilkins; 2007;
  2. Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive. Online Mendelian Inheritance in Man. 2009; http://omim.org/entry/205950. Accessed 10/26/2011.
  3. Ferri F. Anemia, Sideroblastic. Ferri's Clinical Advisor 2010, 1st ed. . Elsevier; 2009;
  4. Anemias, Sideroblastic. National Organization for Rare Disorders (NORD). 2007; https://rarediseases.org/rare-diseases/anemias-sideroblastic/.
  5. Bottomley SS, Schrier SL. Clinical aspects, diagnosis, and treatment of sideroblastic anemias. In: Basow, DS. UpToDate. Waltham, MA: UpToDate; 2011;
  6. Alcindor T, Bridges KR. Sideroblastic Anemias. The Information Center for Sickle Cell and Thalassemic Diseases. 2001; http://sickle.bwh.harvard.edu/sideroblastic.html. Accessed 12/9/2009.