Accessible Requires Authentication Published by De Gruyter April 7, 2021

Compound heterozygotes of Hb Constant Spring and Hb Stanleyville II in HbE/β0-thalassemia

Li Chen, Linhui Liang, Shuzhen Liao, Yan Huang, Liang Liang and Youqiong Li ORCID logo

Corresponding author: Youqiong Li, Center for Medical Genetics and Prenatal Diagnosis, People’s Hospital of Guangxi Zhuang Autonomous Region, Nanning, Guangxi Zhuang Autonomous Region, P.R. China, E-mail:

  1. Research funding: None declared.

  2. Author contributions: All the authors have accepted responsibility for the entire content of this submitted manuscript and approved submission.

  3. Competing interests: Authors state no conflict of interest.

  4. Informed consent: Informed consent was obtained from all individuals included in this study.

  5. Ethical approval: This study was approved by the Ethics Committee of Baise People’s Hospital.


1. Zorai, A, Moumni, I, Mosbahi, I, Douzi, K, Chaouachi, D, Guemira, F, et al.. Rare hemoglobin variants in Tunisian population. Int J Lab Hematol 2015;37:148–54. Search in Google Scholar

2. Huang, K, Ge, SJ, Yi, W, Bi, H, Lin, KQ, Sun, H, et al.. Interactions of unstable hemoglobin Rush with thalassemia and hemoglobin E result in thalassemia intermedia. Hematology 2019;24:459–66. Search in Google Scholar

3. Xiong, F, Sun, M, Zhang, X, Cai, R, Zhou, Y, Lou, J, et al.. Molecular epidemiological survey of haemoglobinopathies in the Guangxi Zhuang Autonomous Region of southern China. Clin Genet 2010;78:139–48. Search in Google Scholar

4. Kalantri, SA, Ray, R, Choudhuri, S, Roy, S, Bhattacharyya, M. Key determinants of phenotypic heterogeneity of HbE/β thalassemia: a comparative study from Eastern India. Indian J Hematol Blood Transfus 2020;36:123–8. Search in Google Scholar

5. Vasseur, C, Domingues-Hamdi, E, Ledudal, K, Corvoisier, LP, Barau, C, Ghaleh, B, et al.. Red blood cells free α-haemoglobin pool: a biomarker to monitor the β-thalassemia intermedia variability. The ALPHAPOOL study. Br J Haematol 2017;179:142–53. Search in Google Scholar

6. Dherte, P, Vandepitte, J, Ager, JA, Lehmann, H. Stanleyville I and II: two new variants of adult haemoglobin. BMJ 1959;2:282–4. Search in Google Scholar

7. Costa, FF, Sonati, MF, Zago, MA. Hemoglobin Stanleyville II (alpha 78 Asn—Lys) is associated with a 3.7-kb alpha-globin gene deletion. Hum Genet 1991;86:319–20. Search in Google Scholar

8. Lin, M, Huang, Y, Yang, LY, Wang, Q, Zheng, L. Hb Stanleyville II [alpha 78(EF7) Asn→Lys] occurrence in combination with Hb Constant Spring. Blood Cell Mol Dis 2011;46:145–6. Search in Google Scholar

Received: 2020-09-02
Accepted: 2021-03-29
Published Online: 2021-04-07
Published in Print: 2021-08-26

© 2021 Walter de Gruyter GmbH, Berlin/Boston