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Disease Profile

X-linked sideroblastic anemia

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.

Unknown

Age of onset

All ages

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ICD-10

D64.0

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)

Sideroblastic anemia X-linked; XLSA; Anemia sex-linked hypochromic sideroblastic;

Categories

Blood Diseases; Congenital and Genetic Diseases; Metabolic disorders

Summary

X-linked sideroblastic anemia is an inherited disorder that prevents developing red blood cells (erythroblasts) from making enough hemoglobin. People with X-linked sideroblastic anemia have mature red blood cells that are smaller than normal (microcytic) and appear pale (hypochromic) because of the shortage of hemoglobin. This disorder also leads to an abnormal accumulation of iron in red blood cells. The iron-loaded erythroblasts, which are present in bone marrow, are called ring sideroblasts. These abnormal cells give the condition its name. The signs and symptoms of X-linked sideroblastic anemia result from a combination of reduced hemoglobin and an overload of iron. They range from mild to severe and most often appear in young adulthood. Common features include fatigue, dizziness, a rapid heartbeat, pale skin, and an enlarged liver and spleen (hepatosplenomegaly). Over time, severe medical problems such as heart disease and liver damage (cirrhosis) can result from the buildup of excess iron in these organs. X-linked sideroblastic anemia is caused by mutation in the ALAS2 gene. In rare cases, mutations are found in both the HFE gene and the ALAS2 gene, resulting in a more severe form of X-linked sideroblastic anemia. X-linked sideroblastic anemia is inherited in an X-linked recessive pattern.[1]

Symptoms

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
Abnormality of iron homeostasis
0011031
Anemia
Low number of red blood cells or hemoglobin
0001903
Dilated cardiomyopathy
Stretched and thinned heart muscle
0001644
Fatigue
Tired
Tiredness

[ more ]

0012378
Muscle weakness
Muscular weakness
0001324
Pallor
0000980
30%-79% of people have these symptoms
Abnormal left ventricular function
0005162
Atrial fibrillation
Quivering upper heart chambers resulting in irregular heartbeat
0005110
Lipodystrophy
Inability to make and keep healthy fat tissue
0009125
Sudden cardiac death
Premature sudden cardiac death
0001645
Syncope
Fainting spell
0001279
5%-29% of people have these symptoms
Abnormal lymphocyte physiology
0031409
Atrial flutter
0004749
Congestive heart failure
Cardiac failure
Cardiac failures
Heart failure

[ more ]

0001635
Dyspnea
Trouble breathing
0002094
Elevated hepatic transaminase
High liver enzymes
0002910
Glucose intolerance
0001952
Hyperpigmentation of the skin
Patchy darkened skin
0000953
Muscular dystrophy
0003560
Pericardial effusion
Fluid around heart
0001698
Sinoatrial block
0012723
Splenomegaly
Increased spleen size
0001744
Supraventricular tachycardia
0004755
Ventricular arrhythmia
0004308
Percent of people who have these symptoms is not available through HPO
Hypochromic microcytic anemia
0004840
Macrocytic anemia
0001972
Sideroblastic anemia
0001924
Variable expressivity
0003828
X-linked recessive inheritance
0001419

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 X-linked sideroblastic anemia. Click on the link to view a sample search on this topic.

References

  1. X-linked sideroblastic anemia. Genetics Home Reference (GHR). April 2009; https://ghr.nlm.nih.gov/condition/x-linked-sideroblastic-anemia. Accessed 3/11/2013.