Correlation of hematologic parameters and molecular characterization of thalassemia: Phramongkutklao Hospital Experiences
Keywords:
genotype, hematologic parameters, hemoglobin E, alpha thalassemia, beta thalassemiaAbstract
Background: Thalassemia is one of the most common hereditary hemolytic anemias worldwide. The prevalence of thalassemia traits in Thai population is 20-30% for α-thalassemia, 3-9% for β-thalassemia and 20-30% for Hb E. Objective: This study aimed to investigate the prevalence of thalassemia as well as the correlation between phenotypic characteristics and associated parameters, and alpha- and beta-globin genotypes at Phramongkutklao Hospital, a tertiary care center for thalassemic patients in Thailand. Materials and Methods: Four-hundred blood specimens were collected and complete blood counts and hemoglobin typing were performed. All cases were tested for common α-globin mutation, whereas β-globin analysis was tested only in cases of abnormal hemoglobin typing. Results: Among 400 blood specimens, the most common Hb type was A2A pattern accounting for 229 specimens (57.3%) with α-thal 1 identified in 27 specimens (6.8%) and α-thal 2 identified in 37 specimens (9.3%). We found 12 specimens (3.0%) demonstrating A2A pattern with elevated Hb A2 more than 3.5% on Hb typing. Beta thalassemia mutation analysis revealed mutations of codon 41/42 (-TCTT) (1.5%), codon 17 (A>T) (0.8%), nt-28 (A>G) (0.5%) and IVSI-I (G>T) with heterozygous alpha-thal 1 deletion with SEA type (0.3%). Our study found Hb E trait in 127 specimens (31.8%) and homozygous Hb E was detected in 20 specimens (5%). Abnormal hemoglobin was observed in 0.5%. Conclusion: Our study demonstrated the prevalence of thalassemia trait and thalassemia disease up to 62%. Molecular diagnosis is useful to confirm diagnosis and evaluate genotype-phenotype correlation.
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