Hb Lusaka [α131(H14)Ser→Phe (α1)]:: A new variant found in a woman heterozygous for Hb S [β6(A3)Glu→Val]

被引:0
|
作者
Brennan, SO
Chan, T
Sheen, C
Rae, L
机构
[1] Canterbury Hlth Labs, Mol Pathol Lab, Christchurch 8001, New Zealand
[2] Diagnost Medlab, Haematol Lab, Auckland, New Zealand
关键词
D O I
10.1081/HEM-120023381
中图分类号
Q5 [生物化学]; Q7 [分子生物学];
学科分类号
071010 ; 081704 ;
摘要
引用
收藏
页码:177 / 180
页数:4
相关论文
共 35 条
  • [31] Strategy for Identification by Mass Spectrometry of a New Human Hemoglobin Variant with Two Mutations in Cis in the -Globin Chain: Hb S-Clichy [6(A3)GluVal; 8(A5)LysThr]
    Zanella-Cleon, Isabelle
    Prehu, Claude
    Joly, Philippe
    Riou, Jean
    Becchi, Michel
    Wajcman, Henri
    Francina, Alain
    HEMOGLOBIN, 2009, 33 (3-4) : 177 - 187
  • [32] Description of Three New α Variants and Four New β Variants: Hb Montluel [α110(G17)Ala → Val; HBA1: c.332C > T], Hb Cap d'Agde [α131(H14) Ser → Cys; HBA2: c.395C > G] and Hb Corsica [α100(G7) Leu → Pro; HBA1: 302T > C]; Hb N(i)double-under-barmes [β104(G6) Arg → Gly; HBB: c.313A > G], Hb Saint Marcellin [β112(G14) Cys → Gly; HBB: c.337T > G], Hb Saint Chamond [β80(EF4) Asn → 0; HBB: c.241_ 243delAAC] and Hb Dompierre [β29(B11) Gly → Arg; HBB: c.88G > C]
    Renoux, Celine
    Feray, Cecile
    Joly, Philippe
    Lacan, Philippe
    Francina, Alain
    HEMOGLOBIN, 2015, 39 (03) : 147 - 151
  • [33] COINHERITANCE OF A NOVEL MUTATION ON THE HBA1 GENE: c.187delG (p.W62fsX66) [codon 62 (-G) (α1)] WITH THE α212 PATCHWORK ALLELE AND Hb S [β6(A3)Glu→Val, GAG>GTG; HBB: c.20A>T]
    Scheps, Karen G.
    De Paula, Silvia M.
    Bitsman, Alicia R.
    Freigeiro, Daniel H.
    Nora Basack, F.
    Pennesi, Sandra P.
    Varela, Viviana
    HEMOGLOBIN, 2013, 37 (05) : 492 - 500
  • [34] A New δ Chain Variant, Hb A2-Tunis [δ46(CD5)Gly → Glu; HBD: c.140G>A], Observed in a Tunisian Family in Association with a Compound Heterozygosity for Hb C [β6(A3)Glu → Lys; HBB: c.19G>A] β0-Thalassemia [IVS-I-1 (β143, G>A); HBB: c.92+1G>A]
    Moumni, Imen
    Zorai, Amine
    Mahjoub, Sonia
    Mosbahi, Ikbel
    Chaouechi, Dorra
    Benromdhane, Neila
    Abbes, Salem
    HEMOGLOBIN, 2014, 38 (02) : 88 - 90
  • [35] Hb Kochi [β141(H19)Leu→Val (g.1404 C→G);: 144-146(HC1-3)Lys-Tyr-His→0 (g.1413 A→T)]:: A new variant with increased oxygen affinity
    Miyazaki, A
    Nakanishi, T
    Shimizu, A
    Mizobuchi, M
    Yamada, Y
    Imai, K
    HEMOGLOBIN, 2005, 29 (01) : 1 - 10