Exploring the Potential Usefulness of 5-Aminolevulinic Acid for X-Linked Sideroblastic Anemia
نویسندگان
چکیده
منابع مشابه
Onset of X-linked sideroblastic anemia in the fourth decade.
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.
متن کاملA novel mutation in exon 5 of the ALAS2 gene results in X-linked sideroblastic anemia.
BACKGROUND Mutations in the erythroid-specific 5-aminolevulinate-synthase gene (ALAS2) have been identified in many cases of X-linked sideroblastic anemia (XLSA). METHODS A polymerase chain reaction-mediated restriction fragment length polymorphism (RFLP) assay was used. RESULTS A G527T point mutation was identified. This resulted in a substitution of tyrosine for asparagine at residue 159 ...
متن کاملLate-onset X-linked sideroblastic anemia following hemodialysis.
X-linked sideroblastic anemia (XLSA) is due to deficient activity of erythroid-specific 5-aminolevulinate synthase (ALAS2). We report here a patient who developed sideroblastic anemia at the age of 81 years while undergoing hemodialysis. The diagnosis of sideroblastic anemia was established by the presence of ringed sideroblasts in the bone marrow, and treatment with oral pyridoxine completely ...
متن کاملAbcb7, the gene responsible for X-linked sideroblastic anemia with ataxia, is essential for hematopoiesis.
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 and formally demonstrate that XLSA/A is due to partial loss of function mutations in Abcb7 that directly o...
متن کاملPyridoxine refractory X-linked sideroblastic anemia caused by a point mutation in the erythroid 5-aminolevulinate synthase gene.
To elucidate how pyridoxine-refractory X-linked sideroblastic anemia (XLSA) develops, we analyzed the erythroid-specific 5-aminolevulinate synthase (ALAS-E) gene of a patient with the anemia. The activity and amount of the enzyme in bone marrow cells of the patient were found to be approximately 5% of the normal control. We identified a point mutation, which introduces an amino acid substitutio...
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ژورنال
عنوان ژورنال: Blood
سال: 2014
ISSN: 0006-4971,1528-0020
DOI: 10.1182/blood.v124.21.215.215