Sideroblastic anemia pyridoxine-refractory autosomal recessive
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
Age of Onset
Autosomal dominant ?A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease
Autosomal recessive ?Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype
X-linked dominant ?X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked recessive ?Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder
Mitochondrial or multigenic ?Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor ?Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
Other Names (AKA)
Pyridoxine refractory sideroblastic anemia; Refractory anemia with ringed sideroblasts; RARS;
Blood Diseases; Rare Cancers
In sideroblastic anemia pyridoxine-refractory
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.
|Medical Terms||Other Names||
|80%-99% of people have these symptoms|
|Refractory anemia with ringed sideroblasts||0004828|
|30%-79% of people have these symptoms|
|Megaloblastic erythroid hyperplasia||0200143|
|5%-29% of people have these symptoms|
|Abnormal fingernail morphology||
Abnormality of the fingernails
[ more ]
|Abnormal number of granulocyte precursors||0012137|
|Hyposegmentation of neutrophil nuclei||0011447|
Increased spleen size
Low platelet count
|1%-4% of people have these symptoms|
|Acute myeloid leukemia||0004808|
|Bone marrow hypocellularity||
Bone marrow failure
|Congestive heart failure||
[ more ]
|Increased megakaryocyte count||0005513|
Elevated white blood count
High white blood count
Increased blood leukocyte number
[ more ]
Low blood neutrophil count
Low neutrophil count
[ more ]
Low blood cell count
Increased number of platelets in blood
|Percent of people who have these symptoms is not available through HPO|
|Autosomal recessive inheritance||0000007|
|Decreased mean corpuscular volume||0025066|
|Increased serum ferritin||
Elevated serum ferritin
High ferritin level
Increased serum ferritin level
[ more ]
Onset in first year of life
Onset in infancy
[ more ]
A few small studies have described the use of allogenic bone marrow or
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.
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.
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.
- The Merck Manuals Online Medical Library provides information on this condition for patients and caregivers.
- 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.
- Escott-Stump S. Nutrition and Diagnosis-Related Care. Lippincott Williams & Wilkins; 2007;
- Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive. Online Mendelian Inheritance in Man. 2009; https://omim.org/entry/205950. Accessed 10/26/2011.
- Ferri F. Anemia, Sideroblastic. Ferri's Clinical Advisor 2010, 1st ed. . Elsevier; 2009;
- Anemias, Sideroblastic. National Organization for Rare Disorders (NORD). 2007; https://rarediseases.org/rare-diseases/anemias-sideroblastic/.
- Bottomley SS, Schrier SL. Clinical aspects, diagnosis, and treatment of sideroblastic anemias. In: Basow, DS. UpToDate. Waltham, MA: UpToDate; 2011;
- Alcindor T, Bridges KR. Sideroblastic Anemias. The Information Center for Sickle Cell and Thalassemic Diseases. 2001; https://sickle.bwh.harvard.edu/sideroblastic.html. Accessed 12/9/2009.