Genotype-phenotype correlation analysis of patients with thalassemia in quanzhou city, southeast of China

Nan Huang; Yufang Wang; Hailong Huang; Zixuan Chen; Zhishan Zhang

doi:10.1016/j.heliyon.2024.e40144

Genotype-phenotype correlation analysis of patients with thalassemia in quanzhou city, southeast of China

Heliyon. 2024 Nov 5;10(22):e40144. doi: 10.1016/j.heliyon.2024.e40144. eCollection 2024 Nov 30.

Authors

Nan Huang¹, Yufang Wang¹, Hailong Huang², Zixuan Chen³, Zhishan Zhang³

Affiliations

¹ The teaching and research office of clinical laboratory medicine, Quanzhou Medical College, Quanzhou, China.
² Medical Genetic Diagnosis and Therapy Center, Fujian Maternity and Child Health Hospital,Fuzhou, China.
³ Department of Clinical Laboratory, Quanzhou First Hospital Affiliated to Fujian Medical University, Quanzhou, China.

Abstract

Background: The carrying rate of thalassemia is high in Quanzhou city. However, there are few large-scale studies on the correlation analysis between genotype and phenotype of thalassemia in Quanzhou. In this study, the genotype and phenotype data of 1076 individuals with thalassemia in Quanzhou city were analyzed to provide reference data for screening and diagnosis of thalassemia in this region.

Material and methods: Reverse dot blot hybridization (RDB-PCR), Gap-PCR and nested PCR were used to detect the thalassemia genotype. Clinical and hematological parameters of 1076 individuals of thalassemia were collected to analyze the correlation between genotype and phenotype.

Results: Among 2997 subjects, 1076 cases diagnosed as thalassemia gene carrier or patients, with detection rate 35.9 %, among which Southeast Asian deletion (--^SEA)/αα was the most common α-thalassemia genotype (48.4 %) and one rare genotype was detected: HKαα/--^SEA (0.1 %). Subjects with thalassemia alone showed the least severe symptoms of anemia with higher red blood cell count (RBC) and hemoglobin (Hb), lower red blood cell distribution width (RDW) than those with iron deficiency (ID) or iron overload (IO) (p < 0.05). The Hb, mean corpuscular volume (MCV), mean corpuscular hemoglobin (MCH) levels in gene carriers of α-thalassemia were higher than those of β-thalassemia, while RBC, RDW and serum ferritin (SF) levels were lower than the later(p < 0.05). Among individuals with --^SEA/αα, the Hb, MCV, MCH, mean corpuscular hemoglobin concentration (MCHC) and SF levels of subjects≥19 years old were higher than those of ≤18 years old. For cases ≥19 years old, the RBC, Hb and SF levels in male were higher than that in female, while MCHC level was lower than female(p < 0.05).

Conclusion: The difference of hematological phenotypes in patients with thalassemia is not only affected by their genotype, but also the influence of gender and age.

Keywords: Genotype; Phenotype; Thalassemia.