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

Abstract

<b><i>Objectives:</i></b> This study aimed to evaluate the distribution of genotypes and iron metabolism imbalance in transfusion-dependent thalassemia patients. <b><i>Methods:</i></b> Genotype analysis was conducted on 84 thalassemia patients requiring transfusion, and retrospective analysis of iron overload was performed on 48 transfusion-dependent patients. <b><i>Results:</i></b> 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. <b><i>Conclusions:</i></b> 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.