Genotype Distribution and Clinical Characteristics of Thalassemia Patients Needing Transfusion in Yangjiang, Western Guangdong

Zhi-Xiao Chen; Rong-Huo Liu; Jian-Cheng Huang; Jia-Min Mo; Yan-Qing Zeng; Yu-Chan Huang; Li-Ye Yang

doi:10.1159/000540518

Genotype Distribution and Clinical Characteristics of Thalassemia Patients Needing Transfusion in Yangjiang, Western Guangdong

Transfus Med Hemother. 2024 Aug 28;52(3):202-210. doi: 10.1159/000540518. eCollection 2025 Jun.

Authors

Zhi-Xiao Chen¹, Rong-Huo Liu¹, Jian-Cheng Huang¹, Jia-Min Mo¹, Yan-Qing Zeng², Yu-Chan Huang², Li-Ye Yang²

Affiliations

¹ Department of Transfusion, People's Hospital of Yangjiang, Yangjiang, PR China.
² Precision Medical Lab Center, People's Hospital of Yangjiang, Yangjiang, PR China.

Abstract

Objectives: This study aimed to evaluate the distribution of genotypes and iron metabolism imbalance in transfusion-dependent thalassemia patients.

Methods: Genotype analysis was conducted on 84 thalassemia patients requiring transfusion, and retrospective analysis of iron overload was performed on 48 transfusion-dependent patients.

Results: Among the 84 thalassemia cases requiring transfusion, six mutations of α-thalassemia were identified, including --^SEA, α^CS, -α^3.7, -α^4.2, α^QS, and α^WS. Nine mutations of β-thalassemia were also found, with CD41-42 being the most common. Of the 48 transfusion-dependent patients, 40 (83.3%) had iron overload with serum ferritin (SF) levels above 1,000 ng/mL. The recent SF level was lower than 3 years ago, but the overall ferritin level remains elevated.

Conclusions: β-thalassemia was the predominant type among transfusion-dependent thalassemia patients, with CD41-42/-28, CD41-42/IVS-II-654, and CD17/IVS-II-654 being the most common genotypes. Proper blood transfusion and iron chelation therapy are essential for managing transfusion-dependent thalassemia. While some patients show a reduction in SF levels after 3 years of treatment, there are still individuals who exhibit elevated levels necessitating ongoing management.

Keywords: Genotype; Iron overload; Serum ferritin; Thalassemia; Transfusion.

Plain language summary

This study is a retrospective research that investigates the genotype distribution and iron metabolic imbalance in thalassemia patients requiring blood transfusion. Eighty-four thalassemia patients needing transfusion were enrolled in the study and underwent genotype analysis. Among these patients, 56 were transfusion-dependent and 28 were non-transfusion-dependent. Of the 56 transfusion-dependent patients, 48 were observed for 3 years, and their iron overload status was analyzed in this study. Our research found that among the 84 thalassemia patients needing transfusion, there were six types of α-thalassemia deletions and nine types of β-thalassemia mutations. Among the 56 transfusion-dependent patients, three types of α-thalassemia genotypes and 15 types of β-thalassemia genotypes were identified. Among the 48 transfusion-dependent thalassemia patients observed for 3 years, 40 patients exhibited iron overload with SF levels exceeding 1,000 ng/mL. The recent SF levels were lower than those 3 years ago. Our study found that β-thalassemia is the most common type of transfusion-dependent thalassemia. Standard blood transfusion and iron chelation therapy are necessary for transfusion-dependent thalassemia patients. While some patients show a reduction in SF levels after 3 years of treatment, there are still individuals who exhibit elevated levels necessitating ongoing management.