Sideroblastic anemia X-linked

Common Name(s)

Sideroblastic anemia X-linked

Description for this condition is not yet available.
 

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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 18 free, full-text research articles on human participants. First 3 results:

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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Abcb7, the gene responsible for X-linked sideroblastic anemia with ataxia, is essential for hematopoiesis.
 

Author(s): Corinne Pondarre, Dean R Campagna, Brendan Antiochos, Lindsay Sikorski, Howard Mulhern, Mark D Fleming

Journal: Blood. 2007 Apr;109(8):3567-9.

 

X-linked sideroblastic anemia with ataxia (XLSA/A) is a rare syndromic form of inherited sideroblastic anemia associated with spinocerebellar ataxia, and is due to mutations in the mitochondrial ATP-binding cassette transporter Abcb7. Here, we show that Abcb7 is essential for hematopoiesis ...

Last Updated: 5 Apr 2007

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Onset of X-linked sideroblastic anemia in the fourth decade.
 

Author(s): Emília Cortesão, Júlia Vidan, Janet Pereira, Paula Gonçalves, Maria Letícia Ribeiro, Gabriel Tamagnini

Journal: Haematologica. 2004 Oct;89(10):1261-3.

 

We report the case of a 40-year female who manifested late onset, pyridoxine-refractory X-linked sideroblastic anemia, heterozygous for the first described frameshift ALAS2 mutation, CD506-507 (-C). On presentation she had macrocytic anemia with severe iron overload.

Last Updated: 12 Oct 2004

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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.