Literature DB >> 11929048

Multiple mechanisms for hereditary sideroblastic anemia.

Kazumichi Furuyama1, Shigeru Sassa.   

Abstract

Hereditary sideroblastic anemia (HSA) is a heterogeneous group of inherited anemic disorders which is characterized by the presence of ringed sideroblasts in the bone marrow, microcytic hypochromic anemia and typically its X-linked inheritance in patients. It has been shown that a deficiency of the erythroid-specific delta-aminolevulinate synthase (ALAS-E) activity is responsible for pyridoxine-responsive HSA in many patients, however, the pathogenesis of other types of HSA remains still unknown. In this article, recent evidence suggesting multiple causes for HSA is summarized and discussed.

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Year:  2002        PMID: 11929048

Source DB:  PubMed          Journal:  Cell Mol Biol (Noisy-le-grand)        ISSN: 0145-5680            Impact factor:   1.770


  4 in total

Review 1.  5-aminolevulinate synthase: catalysis of the first step of heme biosynthesis.

Authors:  G A Hunter; G C Ferreira
Journal:  Cell Mol Biol (Noisy-le-grand)       Date:  2009-02-16       Impact factor: 1.770

2.  Crystal structure of 5-aminolevulinate synthase, the first enzyme of heme biosynthesis, and its link to XLSA in humans.

Authors:  Isabel Astner; Jörg O Schulze; Joop van den Heuvel; Dieter Jahn; Wolf-Dieter Schubert; Dirk W Heinz
Journal:  EMBO J       Date:  2005-08-25       Impact factor: 11.598

3.  The role of the iron transporter ABCB7 in refractory anemia with ring sideroblasts.

Authors:  Jacqueline Boultwood; Andrea Pellagatti; Maryam Nikpour; Beena Pushkaran; Carrie Fidler; Helen Cattan; Tim J Littlewood; Luca Malcovati; Matteo G Della Porta; Martin Jädersten; Sally Killick; Aristoteles Giagounidis; David Bowen; Eva Hellström-Lindberg; Mario Cazzola; James S Wainscoat
Journal:  PLoS One       Date:  2008-04-09       Impact factor: 3.240

Review 4.  Biology of Heme in Mammalian Erythroid Cells and Related Disorders.

Authors:  Tohru Fujiwara; Hideo Harigae
Journal:  Biomed Res Int       Date:  2015-10-18       Impact factor: 3.411

  4 in total

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