Severe Hb H Disease Caused by Hb Zurich-Albisrieden (HBA1: c.178G>C): Another Case Report

被引：0
|
作者：
Wu, Shao-Min [1 ]
Huang, Su-Ran [1 ]
Li, Chan [1 ]
Chen, Gui-Lan [2 ]
Li, Dong-Zhi [2 ,3 ]
机构：
[1] Southern Med Univ, Affiliated Dongguan Hosp, Dongguan Peoples Hosp, Prenatal Diag Ctr, Dongguan, Guangdong, Peoples R China
[2] Guangzhou Med Univ, Prenatal Diagnost Ctr, Guangzhou Women & Childrens Med Ctr, Guangzhou, Guangdong, Peoples R China
[3] Guangzhou Med Univ, Prenatal Diagnost Ctr, Guangzhou Women & Childrens Med Ctr, Jinsui Rd 9, Guangzhou, Guangdong, Peoples R China
来源：
HEMOGLOBIN | 2022年 / 46卷 / 06期
关键词：
alpha-Thalassemia (alpha-thal); Hb H disease; Hb Zurich-Albisrieden; Hb variant; COMPOUND HETEROZYGOSITY;
D O I：
10.1080/03630269.2023.2165444
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：
Hb Zurich-Albisrieden, [alpha 59(E8)Gly & RARR;Arg, HBA1: c.178G > C] is a rare and highly unstable alpha-globin chain variant. The involved mutation has been reported in both HBA1 and HBA2 genes. A few compound heterozygotes of Hb Zurich-Albisrieden and alpha(0)-thalassemia have shown that this variant is associated with severe Hb H disease. We describe here another case of Hb Zurich-Albisrieden who presented with transfusion-dependent anemia beginning shortly after birth.
引用
收藏
页码：341 / 343
页数：3
相关论文
共 50 条
  • [41] A Case of Misdiagnosis Caused by the Coinheritance of Hb G-Siriraj [β7(A4)Glu→Lys; HBB: c.22G>A] and Hb H Disease
    Guan, Zhi-Yang
    Zhong, Ze-Yan
    Xu, Zhi-Bang
    Chen, Jian-Hong
    Liu, Yan-Hui
    HEMOGLOBIN, 2022, 46 (06) : 338 - 340
  • [42] Identification of a new hemoglobin variant Hb Liuzhou [HBA1:C.182A→G] by MALDI-TOF mass spectrometry during HbA1c measurement
    Xu, Anping
    Chen, Weidong
    Xie, Weijie
    Ji, Ling
    SCANDINAVIAN JOURNAL OF CLINICAL & LABORATORY INVESTIGATION, 2020, 80 (06): : 479 - 483
  • [43] Hb Nouakchott [114(GH2)ProLeu; HBA1: c.344C>T], A Second and Third Case Described in Two Unrelated Dutch Families
    Pondman, Kirsten M.
    Brinkman, Jacoline W.
    van der Straaten, Hanneke M.
    Stroobants, An K.
    Harteveld, Cornelis L.
    HEMOGLOBIN, 2018, 42 (01) : 51 - 53
  • [44] Hb PAPANUI [α99(G8)Lys→Arg; HBA2: c.299A>G]: A NOVEL SILENT SUBSTITUTION INTERFERING IN Hb A1c DETERMINATION
    Brennan, Stephen O.
    Chan, Tim
    HEMOGLOBIN, 2013, 37 (06) : 589 - 592
  • [45] Hb Amsterdam-A1 [32(B13)MetIle; HBA1: c.99G>A]: A Hyperunstable Variant Due to a New Mutation on the 1 Gene
    Brennan, Stephen O.
    Wang, Darrell
    Horridge, Mark
    Sheen, Campbell R.
    HEMOGLOBIN, 2017, 41 (02) : 140 - 143
  • [46] FIRST CASE DESCRIBED OF HB FONTAINEBLEAU (HBA2 C.64G> C) IN SPANISH TERRITORY IN PATIENT WITH MICROCITOSIS
    Gomez-Perez, L.
    Serra, M.
    Sales, X.
    Criado, V
    Payan Pernia, S.
    Rojas, E.
    Bernal, S.
    Suralles, J.
    Remacha Angel, F.
    HAEMATOLOGICA, 2019, 104 : 82 - 83
  • [47] Hb Qinzhou [α1 78 (EF7) Asn→Lys (AAC>AAA); HBA1:c.237C>A]: a Novel α-Globin Variant in a Chinese Family
    Lao, Zhongchan
    Ding, Gengcai
    Yang, Fengjuan
    Liang, Liang
    Li, Youqiong
    CLINICAL LABORATORY, 2023, 69 (05) : 1036 - 1039
  • [48] Hb Olivet (HBA1: C.40G>A; p.Ala14Thr), a Novel Silent Hemoglobin Variant in Two Families of Distinct Origin
    Harteveld, Cornelis L.
    Pissard, Serge
    Korver, Anna M. H.
    Riou, Jean
    Legac, Eric
    Lansbergen, Gideon
    Pardijs, Inge L.
    Giordano, Piero C.
    Versteegh, Florens G. A.
    HEMOGLOBIN, 2016, 40 (05) : 349 - 352
  • [49] Effects of the Hb E, Hb H and Hb G-Taichung variants on HbA1c values by the Bio-Rad variant™ II turbo analyzer
    Lee, Su-Chen
    Wang, Li-Hsuan
    Tsai, Shih-Meng
    Fang, Hung-Yao
    Tsai, Li-Yu
    CLINICAL BIOCHEMISTRY, 2011, 44 (16) : 1338 - 1342
  • [50] Case report: Hb phnom penh causing disproportionally elevated HbA1c readings
    Kennedy, A.
    Moloney, C.
    Marwat, Q.
    Quinn, S.
    Bakri, M.
    Gilligan, O.
    O'Halloran, D. J.
    IRISH JOURNAL OF MEDICAL SCIENCE, 2022, 191 (SUPPL 4) : 107 - 107
12345