Objective Phenotypic analysis of patients with common and rare thalassemia genotypes was conducted to explore the differences between different genotypes and phenotypes.Methods The 64 patients with thalassemia from Nanning,Liuzhou and Baise were detected by reverse dot blot and gap-PCR to identify the genotypes and grouped according to the results.Treatment history,hematology and iron metabolism biochemical indexes were collected.Kruskal-Wallis test or Welch one-way ANOVA test were used to analyze phenotypic characteristics of patients.Results 58 common genotypes were de-tected,including 30 β0/β0 patients,28 HbH CS patients(αCSα/--SEA)and 6 patients with rare genotypes,which is included 3 homozygous mutation of Hb CS patients and 3 HbH(-α3.7/--SEA)co-inherited β0/β0 patients.Phenotypic analysis showed that β0/β0 patients had the shortest transfusion-free survival time and the most severe clinical symptoms,while HbH CS patients had the mildest symptoms,but with a wide range of clinical phenotypic heterogeneity.Hb CS homozygous patients are sig-nificantly more transfusion-dependence and more iron burden compared to HbH CS patients.It is no significant difference in the phenotype of HbH co-inherited β0/β0 compared with β0/β0 patients,but the phenotype severity showed a downward trend.The phenotype of both homozygous mutation of Hb CS and HbH co-inherited β0/β0 are similar to that of β0/β0 patients,which is easy to misdiagnose,and molecular diagnosis is needed to identify the genotype of patients.Conclusion The genotypes and phenotypes of thalassemia demonstrate great complexity and diversity.β-thalassemia patients have a more severe phenotype than α-thalassemia patients.Phenotypic heterogeneity is greater in patients with α-thalassemia than in those with β-thalassemia.The phenotype of the rare genotype is similar to that of β-thalassemia,in which the phenotype of homozygous mutation of Hb CS is more severe than that of HbH CS.
维普
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