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<span>X-linked sideroblastic anemia</span>
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<h1>X-linked sideroblastic anemia</h1>
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<h2>Description</h2>
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<section><div class="mp-content"><p>X-linked sideroblastic anemia is an inherited disorder that prevents developing red blood cells (erythroblasts) from making enough <a class="image-modal" data-alt="Illustration showing hemoglobin as the oxygen-binding molecule in red blood cells" data-caption="" data-credit="Designua/Shutterstock.com" data-filepath="images/PX000154_PRESENTATION.jpeg" data-imgtype="genetics" data-pix="PX000154" data-sourceurl="" data-title="Hemoglobin" href="https://medlineplus.gov/images/PX000154_PRESENTATION.jpeg" id="PX000154_1" title="Show image">hemoglobin<img alt="" aria-hidden="true" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a>, which is the protein that carries oxygen in the blood. 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.</p><p>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 <a class="image-modal" data-alt="Main sign and symptoms that may appear in anemia. organs on silhouette man" data-caption="" data-credit="Designua/Shutterstock.com" data-filepath="images/PX000178_PRESENTATION.jpeg" data-imgtype="genetics" data-pix="PX000178" data-sourceurl="" data-title="Major signs and symptoms of anemia" href="https://medlineplus.gov/images/PX000178_PRESENTATION.jpeg" id="PX000178_2" title="Show image">features<img alt="" aria-hidden="true" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a> 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.</p></div>
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<div class="mp-exp exp-full" data-bookmark="frequency">
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<h2>Frequency</h2>
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<section><div class="mp-content"><p>This form of anemia is uncommon. However, researchers believe that it may not be as rare as they once thought. Increased awareness of the disease has led to more frequent diagnoses.</p></div>
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</section>
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<div class="mp-exp exp-full" data-bookmark="causes">
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<h2>Causes</h2>
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<section><div class="mp-content"><p>Mutations in the <i><a data-pid="17157" href="https://medlineplus.gov/genetics/gene/alas2/">ALAS2</a></i> gene cause X-linked sideroblastic anemia. The <i>ALAS2</i> gene provides instructions for making an enzyme called erythroid ALA-synthase, which plays a critical role in the production of <a class="image-modal" data-alt="Molecular model of the struture of heme." data-caption="Heme is a small, flat molecule with an iron ion (dark red) at its center. Heme is an essential component of hemoglobin, the protein in blood that carries oxygen throughout our bodies." data-credit="Rachel Kramer Green, RCSB Protein Data Bank" data-filepath="images/PX0000CO_PRESENTATION.jpeg" data-imgtype="genetics" data-pix="PX0000CO" data-sourceurl="https://images.nigms.nih.gov/Pages/DetailPage.aspx?imageID=577" data-title="Structure of heme, top view" href="https://medlineplus.gov/images/PX0000CO_PRESENTATION.jpeg" id="PX0000CO_2" title="Show image">heme<img alt="" aria-hidden="true" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a> (a component of the <a class="image-modal" data-alt="Illustration showing hemoglobin as the oxygen-binding molecule in red blood cells" data-caption="" data-credit="Designua/Shutterstock.com" data-filepath="images/PX000154_PRESENTATION.jpeg" data-imgtype="genetics" data-pix="PX000154" data-sourceurl="" data-title="Hemoglobin" href="https://medlineplus.gov/images/PX000154_PRESENTATION.jpeg" id="PX000154_3" title="Show image">hemoglobin<img alt="" aria-hidden="true" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a> protein) in bone marrow.</p><p><i>ALAS2</i> mutations impair the activity of erythroid ALA-synthase, which disrupts normal heme production and prevents erythroblasts from making enough hemoglobin. Because almost all of the iron transported into erythroblasts is normally incorporated into heme, the reduced production of heme leads to a <a class="image-modal" data-alt="Photograph of stained stomach cells on a microscope slide, showing brownish iron accumulations inside the cells." data-caption="" data-credit="Jubal Harshaw/Shutterstock.com" data-filepath="images/PX0000VC_PRESENTATION.jpeg" data-imgtype="genetics" data-pix="PX0000VC" data-sourceurl="" data-title="Accumulation of iron in stomach cells" href="https://medlineplus.gov/images/PX0000VC_PRESENTATION.jpeg" id="PX0000VC_4" title="Show image">buildup of excess iron<img alt="" aria-hidden="true" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a> in these cells. Additionally, the body attempts to compensate for the hemoglobin shortage by absorbing more iron from the diet. This buildup of excess iron damages the body's organs. Low hemoglobin levels and the resulting accumulation of iron in the body's organs lead to the characteristic features of X-linked sideroblastic anemia.</p><p>People who have a mutation in another gene, <i><a data-pid="17109" href="https://medlineplus.gov/genetics/gene/hfe/">HFE</a></i>, along with a mutation in the <i>ALAS2</i> gene may experience a more severe form of X-linked sideroblastic anemia. In this uncommon situation, the combined effect of these two mutations can lead to a more serious iron overload. Mutations in the <i>HFE</i> gene alone can increase the absorption of iron from the diet and result in hemochromatosis, which is another type of iron overload disorder.</p></div>
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</section>
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<section>
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<div class="related-genes mp-exp exp-full">
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<h3>Learn more about the genes associated with X-linked sideroblastic anemia</h3>
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<ul class="relatedmp">
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<li><a href="https://medlineplus.gov/genetics/gene/alas2/">ALAS2</a></li>
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<li><a href="https://medlineplus.gov/genetics/gene/hfe/">HFE</a></li>
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</section>
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<div class="mp-exp exp-full" data-bookmark="inheritance">
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<h2>Inheritance</h2>
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||
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||
<section><div class="mp- mp-content"><p>This condition is inherited in an <a class="image-modal" data-alt="Two generations of a family with an X-linked recessive disorder. In this form of inheritance, the chance of being affected or being a carrier depends on whether the mother or the father has the mutated gene on the X chromosome." data-caption="" data-credit="U.S. National Library of Medicine" data-filepath="images/PX000068_PRESENTATION.jpeg" data-imgtype="genetics" data-pix="PX000068" data-sourceurl="" data-title="X-linked recessive inheritance" href="https://medlineplus.gov/images/PX000068_PRESENTATION.jpeg" id="PX000068_1" title="Show image">X-linked recessive pattern<img alt="" aria-hidden="true" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a>. The gene associated with this condition is located on the X chromosome, which is one of the two <a class="image-modal" data-alt="Karyotype showing 22 autosomes and 2 sex chromsomes, either two X chromosomes or an X chromosome and a Y chromosome." data-caption="The X chromosome is one of two sex chromosomes. Humans and most mammals have two sex chromosomes, the X and Y. Females have two X chromosomes in their cells, while males have X and Y chromosomes in their cells. Egg cells all contain an X chromosome, while sperm cells contain an X or a Y chromosome. This arrangement means that during fertilization, it is the male that determines the sex of the offspring." data-credit="Darryl Leja, NHGRI" data-filepath="images/PX0000HO_PRESENTATION.jpeg" data-imgtype="genetics" data-pix="PX0000HO" data-sourceurl="" data-title="Sex chromosomes (X and Y)" href="https://medlineplus.gov/images/PX0000HO_PRESENTATION.jpeg" id="PX0000HO_2" title="Show image">sex chromosomes<img alt="" aria-hidden="true" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a>. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. In females (who have two X chromosomes), a mutation would have to occur in both copies of the gene to cause the disorder. Because it is unlikely that females will have two altered copies of this gene, males are affected by X-linked recessive disorders much more frequently than females. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons.</p><p>In X-linked recessive inheritance, a female with one altered copy of the gene in each cell is called a carrier. Carriers of an <i><a data-pid="17157" href="https://medlineplus.gov/genetics/gene/alas2/">ALAS2</a></i> mutation can pass on the mutated gene, but most do not develop any symptoms associated with X-linked sideroblastic anemia. However, carriers may have abnormally small, pale red blood cells and related changes that can be detected with a blood test.</p></div>
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</section>
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||
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||
</div>
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||
<div class="mp-exp exp-full" data-bookmark="synonyms">
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||
<h2>Other Names for This Condition</h2>
|
||
|
||
<section>
|
||
<ul class="bulletlist">
|
||
<li>Anemia, hereditary sideroblastic</li> <li>Anemia, sex-linked hypochromic sideroblastic</li> <li>ANH1</li> <li>Congenital sideroblastic anaemia</li> <li>Erythroid 5-aminolevulinate synthase deficiency</li> <li>Hereditary iron-loading anemia</li> <li>X chromosome-linked sideroblastic anemia</li> <li>X-linked pyridoxine-responsive sideroblastic anemia</li> <li>XLSA</li>
|
||
</ul>
|
||
</section>
|
||
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||
</div>
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||
<div class="mp-exp exp-full" data-bookmark="resources">
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||
<h2>Additional Information & Resources</h2>
|
||
|
||
<section>
|
||
<div class="mp-content">
|
||
|
||
<h2>Genetic Testing Information</h2>
|
||
<ul>
|
||
|
||
<li><a href="https://www.ncbi.nlm.nih.gov/gtr/conditions/C4551511/" target="TheNewWin">Genetic Testing Registry: X-linked sideroblastic anemia 1</a> <span class="desc-text"><img alt="From the National Institutes of Health" title="From the National Institutes of Health" src="https://medlineplus.gov/images/nih.png" class="imgdesc" width="25" height="16"></span></li>
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||
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||
</ul>
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||
</div>
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||
</section>
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||
|
||
<section>
|
||
<div class="mp-content">
|
||
|
||
<h2>Genetic and Rare Diseases Information Center</h2>
|
||
<ul>
|
||
|
||
<li><a href="https://rarediseases.info.nih.gov/diseases/9456/index" target="TheNewWin">X-linked sideroblastic anemia</a> <span class="desc-text"><img alt="From the National Institutes of Health" title="From the National Institutes of Health" src="https://medlineplus.gov/images/nih.png" class="imgdesc" width="25" height="16"></span></li>
|
||
|
||
</ul>
|
||
|
||
</div>
|
||
</section>
|
||
|
||
<section>
|
||
<div class="mp-content">
|
||
|
||
<h2>Patient Support and Advocacy Resources</h2>
|
||
<ul>
|
||
|
||
<li><a href="https://rarediseases.org/" target="TheNewWin">National Organization for Rare Disorders (NORD)</a></li>
|
||
|
||
</ul>
|
||
|
||
</div>
|
||
</section>
|
||
|
||
<section>
|
||
<div class="mp-content">
|
||
|
||
<h2>Catalog of Genes and Diseases from OMIM</h2>
|
||
<ul>
|
||
|
||
<li><a href="https://omim.org/entry/300751" target="TheNewWin">ANEMIA, SIDEROBLASTIC, 1; SIDBA1</a></li>
|
||
|
||
</ul>
|
||
|
||
</div>
|
||
</section>
|
||
|
||
<section>
|
||
<div class="mp-content">
|
||
|
||
<h2>Scientific Articles on PubMed</h2>
|
||
<ul>
|
||
|
||
<li><a href="https://pubmed.ncbi.nlm.nih.gov/?term=%28Anemia,+Sideroblastic%5BMAJR%5D%29+AND+%28%28x-linked+sideroblastic+anemia%5BTIAB%5D%29+OR+%28x-linked%5BTIAB%5D+AND+sideroblastic+anemia%5BTIAB%5D%29+OR+%28XLSA%5BTIAB%5D%29%29+NOT+%28ataxia%5BTIAB%5D%29+AND+english%5Bla%5D+AND+human%5Bmh%5D+AND+%22last+3600+days%22%5Bdp%5D" target="TheNewWin">PubMed</a> <span class="desc-text"><img alt="From the National Institutes of Health" title="From the National Institutes of Health" src="https://medlineplus.gov/images/nih.png" class="imgdesc" width="25" height="16"></span></li>
|
||
|
||
</ul>
|
||
|
||
</div>
|
||
</section>
|
||
|
||
</div>
|
||
|
||
<div class="mp-exp exp-full" data-bookmark="references">
|
||
<h2>References</h2>
|
||
|
||
<section>
|
||
<div class="mp-content">
|
||
|
||
<ul>
|
||
|
||
<li>Aivado M, Gattermann N, Rong A, Giagounidis AA, Prall WC, Czibere A,
|
||
Hildebrandt B, Haas R, Bottomley SS. X-linked sideroblastic anemia associated
|
||
with a novel ALAS2 mutation and unfortunate skewed X-chromosome inactivation
|
||
patterns. Blood Cells Mol Dis. 2006 Jul-Aug;37(1):40-5. doi:
|
||
10.1016/j.bcmd.2006.04.003. Epub 2006 Jun 2. <a href="https://pubmed.ncbi.nlm.nih.gov/16735131" target="TheNewWin">Citation on PubMed</a></li>
|
||
|
||
|
||
<li>Ajioka RS, Phillips JD, Kushner JP. Biosynthesis of heme in mammals. Biochim
|
||
Biophys Acta. 2006 Jul;1763(7):723-36. doi: 10.1016/j.bbamcr.2006.05.005. Epub
|
||
2006 Jun 3. <a href="https://pubmed.ncbi.nlm.nih.gov/16839620" target="TheNewWin">Citation on PubMed</a></li>
|
||
|
||
|
||
<li>Bottomley SS, May BK, Cox TC, Cotter PD, Bishop DF. Molecular defects of
|
||
erythroid 5-aminolevulinate synthase in X-linked sideroblastic anemia. J Bioenerg
|
||
Biomembr. 1995 Apr;27(2):161-8. doi: 10.1007/BF02110031. <a href="https://pubmed.ncbi.nlm.nih.gov/7592563" target="TheNewWin">Citation on PubMed</a></li>
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||
|
||
|
||
<li>Bottomley SS. Congenital sideroblastic anemias. Curr Hematol Rep. 2006
|
||
Mar;5(1):41-9. <a href="https://pubmed.ncbi.nlm.nih.gov/16537045" target="TheNewWin">Citation on PubMed</a></li>
|
||
|
||
|
||
<li>Cazzola M, May A, Bergamaschi G, Cerani P, Rosti V, Bishop DF. Familial-skewed
|
||
X-chromosome inactivation as a predisposing factor for late-onset X-linked
|
||
sideroblastic anemia in carrier females. Blood. 2000 Dec 15;96(13):4363-5. <a href="https://pubmed.ncbi.nlm.nih.gov/11110715" target="TheNewWin">Citation on PubMed</a></li>
|
||
|
||
|
||
<li>Cotter PD, May A, Li L, Al-Sabah AI, Fitzsimons EJ, Cazzola M, Bishop DF. Four
|
||
new mutations in the erythroid-specific 5-aminolevulinate synthase (ALAS2) gene
|
||
causing X-linked sideroblastic anemia: increased pyridoxine responsiveness after
|
||
removal of iron overload by phlebotomy and coinheritance of hereditary
|
||
hemochromatosis. Blood. 1999 Mar 1;93(5):1757-69. <a href="https://pubmed.ncbi.nlm.nih.gov/10029606" target="TheNewWin">Citation on PubMed</a></li>
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||
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||
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||
<li>May A, Bishop DF. The molecular biology and pyridoxine responsiveness of
|
||
X-linked sideroblastic anaemia. Haematologica. 1998 Jan;83(1):56-70. <a href="https://pubmed.ncbi.nlm.nih.gov/9542324" target="TheNewWin">Citation on PubMed</a></li>
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||
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||
|
||
<li>Nakajima O, Takahashi S, Harigae H, Furuyama K, Hayashi N, Sassa S, Yamamoto
|
||
M. Heme deficiency in erythroid lineage causes differentiation arrest and
|
||
cytoplasmic iron overload. EMBO J. 1999 Nov 15;18(22):6282-9. doi:
|
||
10.1093/emboj/18.22.6282. <a href="https://pubmed.ncbi.nlm.nih.gov/10562540" target="TheNewWin">Citation on PubMed</a> or <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1171691/" target="TheNewWin">Free article on PubMed Central</a></li>
|
||
|
||
|
||
<li>Nemeth E. Iron regulation and erythropoiesis. Curr Opin Hematol. 2008
|
||
May;15(3):169-75. doi: 10.1097/MOH.0b013e3282f73335. <a href="https://pubmed.ncbi.nlm.nih.gov/18391780" target="TheNewWin">Citation on PubMed</a></li>
|
||
|
||
|
||
<li>Sadlon TJ, Dell'Oso T, Surinya KH, May BK. Regulation of erythroid
|
||
5-aminolevulinate synthase expression during erythropoiesis. Int J Biochem Cell
|
||
Biol. 1999 Oct;31(10):1153-67. doi: 10.1016/s1357-2725(99)00073-4. <a href="https://pubmed.ncbi.nlm.nih.gov/10582344" target="TheNewWin">Citation on PubMed</a></li>
|
||
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||
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||
</ul>
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||
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|
||
data-filepath="images/PX000312_PRESENTATION.jpeg"
|
||
data-title="Ringed sideroblast"
|
||
data-caption="Prussian blue staining of the bone marrow aspirate showing a normal erythroid precursor (straight arrow) and a ringed sideroblast containing many iron granules around the nucleus (curved arrow)."
|
||
data-credit="GeneReviews, © 1993-2020 University of Washington"
|
||
data-alt="Prussian blue staining of the bone marrow aspirate showing a normal erythroid precursor (straight arrow) and a ringed sideroblast containing many iron granules around the nucleus (curved arrow)."
|
||
data-sourceurl="https://www.ncbi.nlm.nih.gov/books/NBK1321/figure/sider-anemia.F1/?report=objectonly">
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<img class="scale-with-grid" src="https://medlineplus.gov/images/PX000312_PRESENTATION.jpeg" alt="" title="Ringed sideroblast">
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