Familial analysis of β-thalassemia in 11 children

  • YU Qinqin ,
  • ZHAO Xiaoming ,
  • SHENG Guangyao
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  • Department of Pediatrics of the First Hospital Affiliated to Zhengzhou University, Zhengzhou 450052, Henan, China

Received date: 2018-07-15

  Online published: 2018-07-15

Abstract

Objective To explore the clinical characteristics of β-thalassemia in children in Henan. Method The clinical data of 11 children with β-thalassemia in Henan and their family members were retrospectively analyzed. Results In the 11 cases, there were 2 cases of HbE disease, 1 case of β-thalassemia minor combined with hereditary elliptocytosis, 1 case of β-thalassemia minor accompanied with iron deficiency anemia, and 7 cases of β-thalassemia minor. Hemoglobin electrophoresis was abnormal in all 11 children, including HbA2 and/or HbF elevation in 9 cases and HbE bands in 2 cases. A total of 3 types of beta gene mutations were detected, including 7 cases of IVS-II-654 (C>T) mutation, 2 cases of CD17 (A>T) and 2 cases of CD26 (G>A) mutations. In the 11 children, there were 6 children whose ancestral home was Henan and either of the parents of other 5 children was from the high incidence area of thalassemia. Conclusion The β- thalassemia is a common single-gene hereditary disease, and beta gene mutations exist in Henan. Pedigree investigation, hemoglobin electrophoresis and hematology parameters contribute to diagnose and discover new cases.

Cite this article

YU Qinqin , ZHAO Xiaoming , SHENG Guangyao . Familial analysis of β-thalassemia in 11 children[J]. Journal of Clinical Pediatrics, 2018 , 36(7) : 517 . DOI: 10.3969/j.issn.1000-3606.2018.07.010

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