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
来源：
HEMOGLOBIN | 2003年 / 27卷 / 03期
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
  • [21] A NEW HEMOGLOBIN-VARIANT FOUND DURING INVESTIGATIONS OF DIABETES-MELLITUS - HB PAVIE [ALPHA-135 (H18) VAL-]GLU]
    WAJCMAN, H
    BLOUQUIT, Y
    RIOU, J
    KISTER, J
    POYART, C
    SORIA, J
    GALACTEROS, F
    CLINICA CHIMICA ACTA, 1990, 188 (01) : 39 - 48
  • [22] UNSTABLE ALPHA-CHAIN HEMOGLOBIN-VARIANTS WITH FACTITIOUS BETA-THALASSEMIA BIOSYNTHETIC RATIO - HB QUESTEMBERT (ALPHA-131[H14] SER-]PRO) AND HB CAEN (ALPHA-132[H15] VAL-]GLY)
    WAJCMAN, H
    VASSEUR, C
    BLOUQUIT, Y
    ROSA, J
    LABIE, D
    NAJMAN, A
    REMAN, O
    LEPORRIER, M
    GALACTEROS, F
    AMERICAN JOURNAL OF HEMATOLOGY, 1993, 42 (04) : 367 - 374
  • [23] COMPOUND HETEROZYGOSITY FOR 2 BETA-CHAIN VARIANTS - HB-S [BETA-6(A3)GLU-]VAL] AND THE HIGH-AFFINITY VARIANT HB-SAN-DIEGO [BETA-109(G11)VAL-]MET]
    WILLIAMSON, D
    PERRY, DJ
    BROWN, K
    LANGDOWN, JV
    HEMOGLOBIN, 1995, 19 (1-2) : 27 - 32
  • [24] ASSOCIATION OF HB S [BETA-6(A3)GLU-]VAL] AND HB I-INTERLAKEN [ALPHA-15(A13)GLY-]ASP] IN A SICILIAN MAN - REVIEW OF THE OCCURRENCE OF HB I-INTERLAKEN IN SICILY
    SCHILIRO, G
    RIZZARI, C
    TESTA, R
    LOFARO, F
    COMISI, FF
    RUSSO, A
    HEMOGLOBIN, 1989, 13 (04) : 403 - 410
  • [25] Compound heterozygosity for Hb S [β6(A3)Glu→Val, GAG→GTG] and a new thalassemic mutation [β132(H10)Lys→term, AAA→TAA] detected in a family from West Africa
    Frischknecht, Hannes
    Troxler, Heinz
    Greiner, Jeanette
    Hengartner, Heinz
    Dutly, Fabrizio
    HEMOGLOBIN, 2008, 32 (03) : 309 - 313
  • [26] COINHERITANCE OF Hb S [β6(A3)Glu→Val, GAG>GTG] WITH β0-THALASSEMIA CODON 17 (A>T) IN A THAI PATIENT
    Pornprasert, Sakorn
    Panyasai, Sitthichai
    Kongthai, Kanyakan
    Treesuwan, Kallayanee
    HEMOGLOBIN, 2012, 36 (03) : 265 - 269
  • [27] Hb S-SAN MARTIN: A NEW SICKLING HEMOGLOBIN WITH TWO AMINO ACID SUBSTITUTIONS [β6(A3)Glu→Val;β105(G7)Leu→Pro] IN AN ARGENTINEAN FAMILY
    Feliu-Torres, Aurora
    Eandi Eberle, Silvia
    Bragos, Irma M.
    Sciuccati, Gabriela
    Ojeda, Mara J.
    Calvo, Karina L.
    Voss, Maria E.
    Pratti, Arianna F.
    Milani, Angela C.
    Bonduel, Mariana
    Diaz, Lilian
    Noguera, Nelida I.
    HEMOGLOBIN, 2010, 34 (05) : 500 - 504
  • [28] Description of Two New Variants: Hb Canuts [85(F6)AspHis (1)] and Hb Ambroise Pare [117(GH5)PheIle (2)]; Two New Variants: Hb Beaujolais [84(EF8)ThrAsn] and Hb Monplaisir [147 (Tyr-Lys-Leu-Ala-Phe-Phe-Leu-Leu-Ser-Asn-Phe-Tyr-158-COOH)] and One New Variant: Hb A2-North Africa [59(E3)LysMet]
    Joly, Philippe
    Lacan, Philippe
    Bererd, Martine
    Garcia, Caroline
    Zanella-Cleon, Isabelle
    Becchi, Michel
    Aubry, Martine
    Couprie, Nicole
    Francina, Alain
    HEMOGLOBIN, 2009, 33 (3-4) : 196 - 205
  • [29] A NEW GAMMA-CHAIN VARIANT - HB F-PORDENONE [GAMMA-6(A3) GLU-]GLN - 75ILE,136ALA]
    NAKATSUJI, T
    WEBBER, B
    LAM, H
    WILSON, JB
    HUISMAN, THJ
    SCIARRATTA, GV
    SANSONE, G
    MOLARO, GL
    HEMOGLOBIN, 1982, 6 (04) : 397 - 401
  • [30] THE FIRST CASE OF Hb G-HONOLULU [α30(B11)Glu→Gln (GAG>CAG); HBA2:c.91G>A] OBSERVED IN ASSOCIATION WITH Hb S [β6(A3)Glu→Val, GAG>GTG] IN A HEALTHY ITALIAN CHILD
    Paleari, Renata
    Caruso, Donatella
    Giavarini, Flavio
    Colzani, Carlo
    Brunati, Pietro
    Mosca, Andrea
    HEMOGLOBIN, 2012, 36 (01) : 73 - 79
1234