Sideroblastic anemia X-linked

Common Name(s)

Sideroblastic anemia X-linked

Description for this condition is not yet available.
 

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Condition Specific Organizations

Following organizations serve the condition "Sideroblastic anemia X-linked" for support, advocacy or research.

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Sideroblastic anemia X-linked" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Sideroblastic anemia X-linked" returned 20 free, full-text research articles on human participants. First 3 results:

A novel hemizygous I418S mutation in the ALAS2 gene in a young Korean man with X-linked sideroblastic anemia.
 

Author(s): Soo Young Moon, In-Jae Jun, Ji-Eun Kim, Seung Jun Lee, Hyun Kyung Kim, Sung-Soo Yoon

Journal: Ann Lab Med. 2014 Mar;34(2):159-62.

 

Last Updated: 13 Mar 2014

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X-linked sideroblastic anemia due to ALAS2 intron 1 enhancer element GATA-binding site mutations.
 

Author(s): Dean R Campagna, Charlotte I de Bie, Klaus Schmitz-Abe, Marion Sweeney, Anoop K Sendamarai, Paul J Schmidt, Matthew M Heeney, Helger G Yntema, Caroline Kannengiesser, Bernard Grandchamp, Charlotte M Niemeyer, Nine V A M Knoers, Sonia Swart, Gordon Marron, Richard van Wijk, Reinier A Raymakers, Alison May, Kyriacos Markianos, Sylvia S Bottomley, Dorine W Swinkels, Mark D Fleming

Journal: Am. J. Hematol.. 2014 Mar;89(3):315-9.

 

X-linked sideroblastic anemia (XLSA) is the most common form of congenital sideroblastic anemia. In affected males, it is uniformly associated with partial loss-of-function missense mutations in the erythroid-specific heme biosynthesis protein 5-aminolevulinate synthase 2 (ALAS2). ...

Last Updated: 28 Feb 2014

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X-linked sideroblastic anemia due to carboxyl-terminal ALAS2 mutations that cause loss of binding to the β-subunit of succinyl-CoA synthetase (SUCLA2).
 

Author(s): David F Bishop, Vassili Tchaikovskii, A Victor Hoffbrand, Marie E Fraser, Steven Margolis

Journal: J. Biol. Chem.. 2012 Aug;287(34):28943-55.

 

Mutations in the erythroid-specific aminolevulinic acid synthase gene (ALAS2) cause X-linked sideroblastic anemia (XLSA) by reducing mitochondrial enzymatic activity. Surprisingly, a patient with the classic XLSA phenotype had a novel exon 11 mutation encoding a recombinant enzyme ...

Last Updated: 20 Aug 2012

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Sideroblastic anemia X-linked" returned 0 free, full-text review articles on human participants.

 
 
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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.