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Hematology Volume 27, 2022 - Issue 1
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Case Report

Identification of a rare compound heterozygous hemoglobin variant β0-thal [β17(A14) Lys>Stop, HBB: c.52A>T] and Hb J-Lome [β59(E3) Lys>Asn, HBB: c.180G>C]

Zixin Chena Department of Clinical Laboratory, The Second Affiliated Hospital of Kunming Medical University, Kunming, People’s Republic of China
,
Limei Shaoa Department of Clinical Laboratory, The Second Affiliated Hospital of Kunming Medical University, Kunming, People’s Republic of China
,
Mingfeng Jiangb Department of Clinical Laboratory, Sichuan Center for Disease Control and Prevention, Sichuan, People’s Republic of China
,
Run Maa Department of Clinical Laboratory, The Second Affiliated Hospital of Kunming Medical University, Kunming, People’s Republic of China
,
Hongfen Pingc Department of Clinical Laboratory, The People's Hospital of Wuhua District, Kunming, People’s Republic of China
,
Zhuo Wanga Department of Clinical Laboratory, The Second Affiliated Hospital of Kunming Medical University, Kunming, People’s Republic of China
,
Xuejiao Baa Department of Clinical Laboratory, The Second Affiliated Hospital of Kunming Medical University, Kunming, People’s Republic of China
,
Bingjie Maa Department of Clinical Laboratory, The Second Affiliated Hospital of Kunming Medical University, Kunming, People’s Republic of China
&
Tao Zhoua Department of Clinical Laboratory, The Second Affiliated Hospital of Kunming Medical University, Kunming, People’s Republic of ChinaCorrespondence[email protected]
ORCID Iconhttps://orcid.org/0000-0003-3415-3091
ORCID Icon show all
Pages 946-950 | Published online: 25 Aug 2022

References

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  • Nathan DM, Genuth S, Lachin J, et al. The effect of intensive treatment of diabetes on the development and progression of long-term complications in insulin-dependent diabetes mellitus. N Engl J Med. 1993 Sep 30;329(14):977–86.
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  • Dessi M, Pieri M, Pignalosa S, et al. Performances of capillary electrophoresis and HPLC methods in HbA1c determination: diagnostic accuracy in HbS and HbD-Iran variants’ presence. J Clin Lab Anal. 2015 Jan;29(1):57–60.
  • Giardine B, Borg J, Viennas E, et al. Updates of the HbVar database of human hemoglobin variants and thalassemia mutations. Nucleic Acids Res. 2014 Jan;42(Database issue):D1063–9.
  • Oshima Y, Ideguchi H, Takao M, et al. A patient with a hemoglobin variant (Hb JLome) unexpectedly detected by HPLC for glycated hemoglobin (Hb A1c). Int J Hematol. 1998 Oct;68(3):317–21.
  • Sack JS, Andrews LC, Magnus KA, et al. Location of amino acid residues in human deoxy hemoglobin. Hemoglobin. 1978;2(2):153–69.
  • Bots M, Stroobants AK, Delzenne B, et al. Two novel haemoglobin variants that affect haemoglobin A1c measurement by ion-exchange chromatography. Clin Chem Lab Med. 2015 Aug;53(9):1465–71.
  • Standards of medical care in diabetes–2013. Diabetes care. 2013 Jan;36 Suppl 1(Suppl 1):S11–66.

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