Hereditary sideroblastic anemia

Common Name(s)

Hereditary sideroblastic anemia

The essential features of X-linked sideroblastic anemia include the following: (1) a hypochromic microcytic anemia and 2 discrete populations of red blood cells, one microcytic and the other normocytic; (2) marrow ringed sideroblasts, particularly prominent in the late erythroid precursors; (3) a variable hematologic response to pharmacologic doses of pyridoxine; and (4) systemic iron overload secondary to chronic ineffective erythropoiesis. The age of clinical onset of the disorder can vary from in utero to the ninth decade. Whereas males are preferentially affected, females may present with clinically severe anemia. More commonly, female carriers of the disease have an increased red blood cell distribution width and sometimes erythrocyte dimorphism ({18:Fleming, 2002}).
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Hereditary sideroblastic anemia" for support, advocacy or research.

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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 "Hereditary sideroblastic anemia" returned 3 free, full-text research articles on human participants. First 3 results:

[Hereditary sideroblastic anemia: a rare diagnosis].
 

Author(s): N Brahem-Jmili, N Salem, S Abdelkefi, B Grand Champ, S Bekri, H Sboui, T Mahjoub, S Yacoub, M Kortas

Journal: Ann. Biol. Clin. (Paris). ;62(3):349-52.

 

Hereditary sideroblastic anemia is a very rare disease recessive and X-linked that affect heme biosynthesis by deficit or decreased of delta aminolevulinic acid synthase (ALAS) activity. We report a case of a six-month-old boy, admitted in the hospital for anemic syndrome. The hemogram ...

Last Updated: 25 Jun 2004

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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.
 

Author(s): P D Cotter, A May, L Li, A I Al-Sabah, E J Fitzsimons, M Cazzola, D F Bishop

Journal: Blood. 1999 Mar;93(5):1757-69.

 

X-linked sideroblastic anemia (XLSA) in four unrelated male probands was caused by missense mutations in the erythroid-specific 5-aminolevulinate synthase gene (ALAS2). All were new mutations: T647C, C1283T, G1395A, and C1406T predicting amino acid substitutions Y199H, R411C, R448Q, ...

Last Updated: 18 Mar 1999

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Hereditary sideroblastic anemia and glucose-6-phosphate dehydrogenase deficiency in a Negro family.
 

Author(s): A S Prasad, L Tranchida, E T Konno, L Berman, S Albert, C F Sing, G J Brewer

Journal: J. Clin. Invest.. 1968 Jun;47(6):1415-24.

 

Detailed clinical and genetic studies have been performed in a Negro family, which segregated for sex-linked sideroblastic anemia and glucose-6-phosphate dehydrogenase (G-6-DP) deficiency. This is the first such pedigree reported. Males affected with sideroblastic anemia had growth ...

Last Updated: 29 Jul 1968

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Reviews from the PubMed Database

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The terms "Hereditary sideroblastic anemia" 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

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