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Hemoglobin
international journal for hemoglobin research
Volume 41, 2017 - Issue 4-6
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Original Article

Hb Hornchurch [β43(CD2)Glu→Lys; HBB: c.130G>A] Compromises the Molecular Diagnosis of β-Thalassemia in a Chinese Family

Yuan ZhaoPrenatal Diagnosis Unit, Gansu Provincial Maternity and Child-Care Hospital, Lanzhou, Gansu Province, People’s Republic of China; View further author information
,
Lv-Yin HuangPrenatal Diagnostic Center, Guangzhou Women and Children Medical Center affiliated to Guangzhou Medical University, Guangzhou, Guangdong Province, People’s Republic of ChinaView further author information
,
Fan JiangPrenatal Diagnostic Center, Guangzhou Women and Children Medical Center affiliated to Guangzhou Medical University, Guangzhou, Guangdong Province, People’s Republic of ChinaView further author information
,
Jian-Ying ZhouPrenatal Diagnostic Center, Guangzhou Women and Children Medical Center affiliated to Guangzhou Medical University, Guangzhou, Guangdong Province, People’s Republic of ChinaView further author information
,
Xing-Mei XiePrenatal Diagnostic Center, Guangzhou Women and Children Medical Center affiliated to Guangzhou Medical University, Guangzhou, Guangdong Province, People’s Republic of ChinaView further author information
&
Dong-Zhi LiPrenatal Diagnostic Center, Guangzhou Women and Children Medical Center affiliated to Guangzhou Medical University, Guangzhou, Guangdong Province, People’s Republic of ChinaCorrespondence[email protected]
View further author information
Pages 274-277 | Received 14 Oct 2017, Accepted 19 Nov 2017, Published online: 09 Jan 2018

References

  • Kazazian HH Jr, Dowling CE, Waber PC, et al. The spectrum of β-thalassemia genes in China and Southeast Asia. Blood. 1986;68(4)964–966.
  • Ferrari G, Cavazzana M, Mavilio F. Gene therapy approaches to hemoglobinopathies. Hematol Oncol Clin North Am. 2017;31(5):835–852.
  • Li D, Liao C, Li J, et al. Prenatal diagnosis of β-thalassemia by reverse dot-blot hybridization in southern China. Hemoglobin. 2006;30(3):365–370.
  • Sirichotiyakul S, Saetung R, Sanguansermsri T. Analysis of β-thalassemia mutations in northern Thailand using an automated fluorescence DNA sequencing technique. Hemoglobin. 2003;27(2):89–95.
  • Zhang L, Lin M, Yang LY, et al. First detection of Hb Hornchurch (β43(CD2)Glu→Lys) in a Chinese. Blood Cells Mol Dis. 2010;44(4):217–218.
  • Hoyer JD, Kaur P, Kozak EA, et al. Five variants of the β-globin gene without clinical or hematological effects: Hb Maryland [β47(CD6)Asp→His], Hb Kent [β37(C3)Trp→Cys], Hb Visayan [β136(H14)Gly→Cys], Hb Cutlerville [β138(H16)Ala→Val] and Hb Hornchurch [β43(CD2)Glu→Lys]. Hemoglobin. 2008;32(5):471–477.
  • Li DZ, Yang YD. Invasive prenatal diagnosis of fetal thalassemia. Best Pract Res Clin Obstet Gynaecol. 2017;39:41–52.
  • Li DZ. Hemoglobin New York is not a matter in prenatal screening and diagnosis for β-thalassemia. Pediatr Hematol Oncol. 2008;25(8):769–771.
  • Lou JW, Wang T, Liu YH, et al. Prevalence and molecular characterization of structural hemoglobin variants in the Dongguan region of Guangdong Province, southern China. Hemoglobin. 2014;38(4):282–286.

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