A rare case of α-Eastern Mediterranean complicated with β-Eastern Mediterranean anemia
LIU Yi
XIE Dongde
Abstract：Objective To analyze a case of rare α Eastern Mediterranean anemia complicated with β Eastern Mediterranean anemia,to explore the reasons for the inconsistency between the genotype and phenotype of rare Eastern Mediterranean anemia,and to improve the diagnosis of rare Eastern Mediterranean anemia.Methods Combined with the results of hematological phenotype and hemoglobin electrophoresis analysis,the common genotypes of α and β-Eastern Mediterranean anemia of the subjects were detected by PCR+diversion hybridization method,and the rare α and β protein genes were sequenced by DNA sequencing technology.Results The hematological phenotypes of the subjects were HGB:106 g/L,MCV:68.8fl,and MCH:22.2 pg.The results of capillary electrophoresis showed that HbA2 was 6.18％and HbF was 5.31％.The sequencing results showed αβ compound Eastern Mediterranean with--SEAα0 deletion combined with Taiwaneseβ0 heterozygous deletion.Conclusion In this case,the α globin gene NG_000006:g.26264_45564 was deleted and heterozygous deletion of β gene exon 1 and exon 2,due to the deletion of both α gene andβ gene in this case,the imbalance of the β/α chain ratio was alleviated,and the phenotype was mild or intermediate Eastern Mediterranean anemia.
Keywords：αβ compound Eastern MediterraneanTaiwaneseβ0 gene deletion--SEAα0 deletion
Publication Date：2025-03-31
Online Publishing Date：2025-08-15(First online date of this platform, not the publication date of the document)
Pages：4( 26-29 )