Three kinships with ALAS2 P520L mutations, two in association with severe iron overload, and one with sideroblastic anemia and severe iron overload.

被引:0
|
作者
Lee, PL
Barton, JC
Rao, SV
Acton, RT
Adler, BK
Beutler, E
机构
[1] Scripps Res Inst, Dept Mol & Expt Med, La Jolla, CA USA
[2] Univ Alabama, Dept Med, Birmingham, AL 35294 USA
[3] Carolina Hlth Care, Florence, NC USA
[4] Univ Alabama, Dept Microbiol, Birmingham, AL 35294 USA
关键词
D O I
暂无
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
3723
引用
收藏
页码:8B / 9B
页数:2
相关论文
共 13 条
  • [1] Three kinships with ALAS2 P520L (c. 1559 C → T) mutation, two in association with severe iron overload, and one with sideroblastic anemia and severe iron overload
    Lee, PL
    Barton, JC
    Rao, SV
    Acton, RT
    Adler, BK
    Beutler, E
    BLOOD CELLS MOLECULES AND DISEASES, 2006, 36 (02) : 292 - 297
  • [2] Disparate phenotypic expression of ALAS2 R452H (nt 1407 G→A) in two brothers, one with severe sideroblastic anemia and iron overload, hepatic cirrhosis, and hepatocellular carcinoma
    Barton, James C.
    Lee, Pauline L.
    BLOOD CELLS MOLECULES AND DISEASES, 2006, 36 (03) : 342 - 346
  • [3] Examination of ALAS2, ABC7, Rag1, and IL6 genes as candidate modifiers of iron overload in HFE C282Y homozygotes with severe iron overload.
    Lee, PL
    Barton, JC
    West, C
    Crain, K
    Rao, SV
    Beutler, E
    BLOOD, 2005, 106 (11) : 9B - 9B
  • [4] 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
  • [5] A Novel Model of X-Linked Sideroblastic Anemia (Alas2-KO, XLSA) with Ring Sideroblasts, Severe Anemia, and Iron Overload is Rescued by Lentiviral Gene Transfer
    Castracani, Carlo Castruccio
    Guerra, Amaliris
    Breda, Laura
    Papp, Tyler
    Radaelli, Enrico
    Assenmacher, Charles-Antoine
    Finesso, Giovanni
    Tam, Yink
    Mui, Barbara
    Fontana, Simona
    Riganti, Chiara
    Fiorito, Veronica
    Petrillo, Sara
    Tolosano, Emanuela
    Parhiz, Hamideh
    Rivella, Stefano
    MOLECULAR THERAPY, 2024, 32 (04) : 94 - 94
  • [6] Sideroblastic anemia, iron overload, and ALAS2 R452S in African-American males: phenotype and genotype features of five unrelated patients
    Lee, Pauline L.
    Reid, Thomas J., III
    Bottomley, Sylvia S.
    Barton, James C.
    AMERICAN JOURNAL OF HEMATOLOGY, 2011, 86 (09) : 787 - 789
  • [7] Severe Microcytic Anemia Caused by Complex Hereditary Spherocytosis and X-Linked Sideroblastic Anemia with Mutations in SPTB and ALAS2 Genes
    Zhou, Jianying
    Zhang, Hang
    Qin, Yao
    Liu, Ting
    JOURNAL OF CLINICAL MEDICINE, 2023, 12 (05)
  • [8] 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
  • [9] A Novel ALAS2 Missense Mutation in Two Brothers With Iron Overload and Associated Alterations in Serum Hepcidin/Erythroferrone Levels
    Lira Zidanes, Acaynne
    Marchi, Giacomo
    Busti, Fabiana
    Marchetto, Alessandro
    Fermo, Elisa
    Giorgetti, Alejandro
    Vianello, Alice
    Castagna, Annalisa
    Olivieri, Oliviero
    Bianchi, Paola
    Girelli, Domenico
    FRONTIERS IN PHYSIOLOGY, 2020, 11
  • [10] 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
    Cotter, PD
    May, A
    Li, LP
    Al-Sabah, AI
    Fitzsimons, EJ
    Cazzola, M
    Bishop, DF
    BLOOD, 1999, 93 (05) : 1757 - 1769