Mild Microcytic Anemia in an Infant with a Compound Heterozygosity for Hb C (HBB: c.19G>A) and Hb Osu Christiansborg (HBB: c.157G>A)

被引：1
|
作者：
Boucher, Maria O. [1 ,5 ]
Chui, David H. K. [2 ]
Woda, Bruce A. [3 ]
Newburger, Peter E. [4 ,5 ]
机构：
[1] Univ N Carolina, Div Pediat Hematol Oncol, Dept Pediat, Chapel Hill, NC 27599 USA
[2] Boston Univ, Sch Med, Dept Med, Dept Pathol & Lab Med, Boston, MA 02118 USA
[3] Univ Massachusetts, Sch Med, Dept Pathol, Worcester, MA 01605 USA
[4] Univ Massachusetts, Sch Med, Dept Pediat, Worcester, MA 01605 USA
[5] Univ Massachusetts, Dept Mol Cell & Canc Biol, Sch Med, Worcester, MA 01605 USA
来源：
HEMOGLOBIN | 2016年 / 40卷 / 03期
关键词：
Compound heterozygosity; Hb C; Hb Osu Christiansborg; microcytic anemia;
D O I：
10.3109/03630269.2016.1165245
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：
We report an infant with a compound heterozygosity for Hb C (HBB: c.19G>A) and Hb Osu Christiansborg (HBB: c.157G>A) and a phenotype of mild microcytic anemia with target cell morphology but without overt hemolysis.
引用
收藏
页码：208 / 209
页数：2
相关论文
共 50 条
  • [1] Compound Heterozygosity for Hb D-Ibadan (HBB: c.263C>A) and Hb C (HBB: c.19G>A)
    Kundrapu, Sirisha
    Janaki, Nafiseh
    Meyerson, Howard J.
    HEMOGLOBIN, 2018, 42 (04) : 269 - 271
  • [2] Compound heterozygosity for Hb C/Hb S (HBB: c.19G>A/HBB: c.20A>T) diseases observed in a Syrian family: a case report
    Moassas, Faten
    Daboul, Amir
    Assad, Manar
    Murad, Hossam
    ANNALS OF MEDICINE AND SURGERY, 2023, 85 (04): : 1184 - 1187
  • [3] Hb Tianshui (HBB: C.119A>G) in Compound Heterozygosity with Hb S (HBB: C.20A>T) from Odisha, India
    Meher, Satyabrata
    Dehury, Snehadhini
    Mohanty, Pradeep Kumar
    Patel, Siris
    Pattanayak, Chinmayee
    Bhattacharya, Subhra
    Das, Kishalaya
    Sarkar, Biswanath
    HEMOGLOBIN, 2016, 40 (04) : 270 - 272
  • [4] Rare Hemoglobin Variants: Hb G-Szuhu (HBB: c.243C>G), Hb G-Coushatta (HBB: c.68A>C) and Hb Mizuho (HBB: c.206T>C) in Sri Lankan Families
    Perera, P. Shiromi
    Silva, Ishari
    Hapugoda, Menaka
    Wickramarathne, Merita N.
    Wijesiriwardena, Indira
    Efremov, Dimitar G.
    Fisher, Christopher A.
    Weatherall, David J.
    Premawardhena, Anuja
    HEMOGLOBIN, 2015, 39 (01) : 62 - 65
  • [5] Compound Heterozygosity for Hb Alperton (HBB: c.407C>T) and IVS-I-5 (G>C) (HBB: c.92+5G>C) Mutations Presenting as a Moderate Anemia in an Indian Family
    Godbole, Koumudi G.
    Ramachandran, Angalena
    Karkamkar, Ashwini S.
    Dalal, Ashwin B.
    HEMOGLOBIN, 2018, 42 (02) : 141 - 142
  • [6] Hb Presbyterian (HBB: c.327C>G) in a Nicaraguan Family
    Pernudy-Ubau, Allan
    Salinas-Molina, Jaslyn
    Requenez, Yaneris
    Ortiz-Lopez, Marianela
    Puller, Ann-Christin
    Garcia-Rosales, Kenia
    Rodriguez-Estrada, Anaishelle
    Rodriguez-Romero, Walter
    Mejia-Baltodano, Gerardo
    Luo, Hong-Yuan
    Chui, David H. K.
    HEMOGLOBIN, 2017, 41 (01) : 50 - 52
  • [7] First Report of Compound Heterozygosity for Hb S (HBB: c.20A>T) and Hb Haringey (HBB: c.131A>G)
    Ogu, Ugochi O.
    Reyes Gil, Morayma
    Tolu, Seda S.
    Acharya, Seetharama A.
    Minniti, Caterina P.
    HEMOGLOBIN, 2021, 45 (02) : 136 - 139
  • [8] An Unusual Compound Heterozygosity for Hb O-Arab (HBB: c.364G>A) and Hb D-Los Angeles (HBB: c.364G>C)
    van Gammeren, Adriaan J.
    Pelkmans, Leonie
    van Endschot, Corne C. W.
    Roelofsen-de Beer, Roseri J. A. C.
    Harteveld, Cornelis L.
    HEMOGLOBIN, 2020, 44 (01) : 61 - 63
  • [9] 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
  • [10] Hb Knossos: HBB:c.82G>T Associated with HBB:c.315+1G>A Beta Zero Mutation Causes Thalassemia Intermedia
    Nasouhipur, Hengameh
    Banihashemi, Ali
    Kamangar, Reza Youssefi
    Akhavan-Niaki, Haleh
    INDIAN JOURNAL OF HEMATOLOGY AND BLOOD TRANSFUSION, 2014, 30 : S243 - S245
12345