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Disease Profile

Sideroblastic anemia pyridoxine-refractory autosomal recessive

Prevalence
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.

1-9 / 100 000

US Estimated

Europe Estimated

Age of onset

Adult

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ICD-10

D64.3

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.

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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.

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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.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.

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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.

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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.

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Not applicable

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Other names (AKA)

Pyridoxine refractory sideroblastic anemia; Refractory anemia with ringed sideroblasts; RARS;

Categories

Blood Diseases; Rare Cancers

Summary

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]

Symptoms

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]

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
Learn More:
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
Do you have updated information on this disease? We want to hear from you.

Cause

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.

Treatment

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]

Organizations

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

    Learn more

    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.

        References

        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; https://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; https://sickle.bwh.harvard.edu/sideroblastic.html. Accessed 12/9/2009.

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