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Hematology Volume 27, 2022 - Issue 1
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Case Report

A novel mutation Hb jiangnan[β3(NA3) Leu→Lys, HBB:c.10­_11delinsAA] causing elevated Hb A2 level

Liang Lianga Center for Medical Genetics and Prenatal Diagnosis, People’s Hospital of Guangxi Zhuang Autonomous Region, Nanning, Guangxi, People’s Republic of ChinaView further author information
,
Shuting Ningb Department of Obstetrics, Jiangbin Hospital of Guangxi Zhuang Autonomous Region, Nanning, Guangxi, People’s Republic of ChinaView further author information
,
Xiaocai Luc Department of medical laboratory, Jiangbin Hospital of Guangxi Zhuang Autonomous Region, Nanning, Guangxi, People’s Republic of ChinaView further author information
,
Yingwei Lib Department of Obstetrics, Jiangbin Hospital of Guangxi Zhuang Autonomous Region, Nanning, Guangxi, People’s Republic of ChinaView further author information
,
Mao Tiana Center for Medical Genetics and Prenatal Diagnosis, People’s Hospital of Guangxi Zhuang Autonomous Region, Nanning, Guangxi, People’s Republic of ChinaView further author information
,
Ting Qina Center for Medical Genetics and Prenatal Diagnosis, People’s Hospital of Guangxi Zhuang Autonomous Region, Nanning, Guangxi, People’s Republic of ChinaView further author information
&
Youqiong Lia Center for Medical Genetics and Prenatal Diagnosis, People’s Hospital of Guangxi Zhuang Autonomous Region, Nanning, Guangxi, People’s Republic of ChinaCorrespondence[email protected]
ORCID Iconhttps://orcid.org/0000-0002-8640-7375View further author information
ORCID Icon show all
Pages 772-777 | Published online: 06 Jul 2022

References

  • Sabath DE. Molecular diagnosis of thalassemias and hemoglobinopathies: an ACLPS critical review. Am J Clin Pathol. 2017;148 (1):6–15.
  • Greene DN, Vaughn CP, Crews BO, et al. Advances in detection of hemoglobinopathies. Clin Chim Acta. 2015;439:50–57.
  • Zhao YL, Lin QF, He XW, et al. Hb Hezhou [β64(E8)Gly→Ser; HBB: c.193G>A]: a novel variant on the β-globin gene. Hemoglobin. 2021;45 (2):133–135.
  • Xu AP, Chen WD, Xie WJ, et al. Identification of a new hemoglobin variant Hb Liuzhou [HBA1:C.182A→G] by MALDI-TOF mass spectrometry during HbA1c measurement. Scand J Clin Lab Invest. 2020;80 (6):479–483.
  • Giordano PC, Cnossen MH, Joosten AMS, et al. Codon 24 (TAT>TAG) and codon 32 (ATG>AGG) (Hb Rotterdam): two novel alpha2 gene mutations associated with mild alpha-thalassemia found in the same family after newborn screening. Hemoglobin. 2010;34(4):354–365.
  • Baruah A, Baruah MK. Phenotypic diversity and clinico-hematological profile of Hb E-Beta thalassemic children. Indian J hematol blood transfuse. 2020;36 (1):117–122.
  • Chuansumrit A, Sirachainan N, Kitpoka P, et al. The Effect of blood transfusion on growth of patients with Hb E/β-Thalassemia. Hemoglobin. 2019;43 (4-5):264–272.
  • Li YQ, Huang HP, Chen ZZ, et al. Comparison of capillary electrophoresis and high performance liquid chromatography for detection and quantification of hemoglobin New York. Clin Chem Lab Med. 2016;54 (1):91–95.
  • Wang Y, Zhang K, Xu ZY, et al. The presence of Hb J-Bangkok caused spuriously low glycated hemoglobin value on the Tosoh G7. Scand J Clin Lab Invest. 2014;74 (8):725–727.
  • Li YQ, Li YW, Liang L, et al. First detection of Hb Cenxi [β46(CD5)Gly→Arg (G GG> C GG), HBB: c.139G>C] by capillary electrophoresis. Hemoglobin. 2021;45 (4):262–264.
  • Higgins T, Mack M, Khajuria A. Comparison of two methods for the quantification and identification of hemoglobin variants. Clin Biochem. 2009;42 (7-8):701–705.
  • Hariharan P, Kishnani P, Sawant P, et al. Genotypic-phenotypic heterogeneity of δβ-thalassemia and hereditary persistence of fetal hemoglobin (HPFH) in India. Ann Hematol. 2020;99 (7):1475–1483.
  • Bohara VV, Ray S, Chakrabarti P, et al. Optimizing the dose of hydroxyurea therapy for patients with β-thalassemia intermedia (Hb E-β-thalassemia): a single center study from Eastern India. Hemoglobin. 2014;38(1):44–48.

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