Iron overload in an African American woman with SS hemoglobinopathy and a promoter mutation in the X-linked erythroid-specific 5-aminolevulinate synthase (ALAS2) gene.

被引：0
|
作者：
Barton, JC
Lee, PL
Bertoli, LF
Beutler, E
机构：
[1] So Iron Disorders Ctr, Brookwood Med Ctr, Birmingham, AL USA
[2] Scripps Res Inst, Dept Mol & Expt Med, La Jolla, CA USA
来源：
BLOOD | 2004年 / 104卷 / 11期
关键词：
D O I：
10.1182/blood.V104.11.3683.3683
中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
摘要：
3683
引用
收藏
页码：6B / 7B
页数：2
相关论文
共 26 条
  • [21] An Erythroid-Specific Lentiviral Vector Improves Anemia and Iron Metabolism in a New Model of Alas2 Knock-Out X-Linked Sideroblastic Anemia (XLSA)
    Castracani, Carlo Castruccio
    Guerra, Amaliris
    Breda, Laura
    Rivella, Stefano
    MOLECULAR THERAPY, 2023, 31 (04) : 537 - 538
  • [22] Loss-of-function ferrochelatase and gain-of-function erythroid-specific 5-aminolevulinate synthase mutations causing erythropoietic protoporphyria and X-linked protoporphyria in North American patients reveal novel mutations and a high prevalence of X-linked protoporphyria
    Balwani M.
    Doheny D.
    Bishop D.F.
    Nazarenko I.
    Yasuda M.
    Dailey H.A.
    Anderson K.E.
    Montgomery Bissell D.
    Bloomer J.
    Bonkovsky H.L.
    Phillips J.D.
    Liu L.
    Desnick R.J.
    Molecular Medicine, 2013, 19 (1) : 26 - 35
  • [23] Severe iron overload in a woman with homeostatic iron regulator (HFE) and a novel 5MODIFIER LETTER PRIME-aminolevulinate synthase 2 (ALAS2) mutations: interactions of multiple genetic determinants
    de Gennes, Christian
    Lamoril, Jerome
    Borgel, Adrien
    Boi, Camille
    Yao, Raphael
    Boileau, Catherine
    Tchernitchko, Dimitri
    BRITISH JOURNAL OF HAEMATOLOGY, 2022, 196 (02) : E17 - E20
  • [24] C-terminal deletions in the ALAS2 gene lead to gain of function and cause X-linked dominant protoporphyria without anemia or iron overload
    Whatley, Sharon D.
    Ducamp, Sarah
    Gouya, Laurent
    Grandchamp, Bernard
    Beaumont, Carole
    Badminton, Michael N.
    Elder, George H.
    Holme, Alexander
    Anstey, Alexander V.
    Parker, Michelle
    Corrigall, Anne V.
    Meissner, Peter N.
    Hift, Richard J.
    Marsden, Joanne T.
    Ma, Yun
    Mieli-Vergani, Giorgina
    Deybach, Jean-Charles
    Puy, Herve
    AMERICAN JOURNAL OF HUMAN GENETICS, 2008, 83 (03) : 408 - 414
  • [25] X-linked sideroblastic anemia is a rare cause of microcytosis and iron overload in adults: About 3 cases with 2 new ALAS2 gene mutations improved after iron chelation by phlebotomy
    Touati, Mohamed
    Trimoreau, Franck
    Gourin-Chaury, Marie-Pierre
    Kannengiesser, Caroline
    Turlure, Pascal
    Loustaud-Ratti, Veronique
    Gilbert-Dussardier, Brigitte
    Grandchamp, Bernard
    Bordessoule, Dominique
    BLOOD, 2007, 110 (11) : 227B - 228B
  • [26] Arg452 substitution of the erythroid-specific 5-aminolaevulinate synthase, a hot spot mutation in X-linked sideroblastic anaemia, does not itself affect enzyme activity
    Furuyama, K
    Harigae, H
    Heller, T
    Hamel, BCJ
    Minder, EI
    Shimizu, T
    Kuribara, T
    Blijlevens, N
    Shibahara, S
    Sassa, S
    EUROPEAN JOURNAL OF HAEMATOLOGY, 2006, 76 (01) : 33 - 41
123