Objective To analyse the relationship between genotype and phenotype of the deletional Gγ+(Aγδβ)0-thalassemia with β thalassemia,and explore an approach to rapid prenatal diagnosis for compound heterozygotes of those defect with β-thalassemia. Methods A total of three members in a Chinese family who had a 1-year-old propositus with thalassemia major and requested prenatal diagnosis for the second pregnancy were studied.The results of phenotyping on hematological data including the RBC indices,quantification of HbF and HbA2 by Hb electrophoresis were obtained.Mutations of the β thalassemia were defined by reverse dot blot (RDB) genotyping analysis,and the deletion of Gγ+(Aγδβ)0-thalassemia was analyzed using the method of gap-PCR. Results The propositus inherited the mutation of Gγ+(Aγδβ)0-thalassemia gene from her mother's and inherited the frameshift mutation of CD17(A>T) from her father. Conclusion It is the first time to have performed prenatal diagnosis in Chinese family under risk of compound heterozygotes for Gγ+(Aγδβ)0-thalassemia and β-thalassemia in mainland China,and this strategy to analyze the disease presented may be a valuable reference to the similar problem.
Key words
β-thalassemia /
Gγ+(Aγδβ)0-thalassemia /
gene deletion /
prenatal diagnosis
{{custom_sec.title}}
{{custom_sec.title}}
{{custom_sec.content}}
References
[1] Lin M,Jiao JW,Zhan XH,et al.High resolution melting analysis:a rapid screening and typing tool for common β-thalassemia mutation in Chinese population[J].PLoS One,2014,9(8):1-7.
[2] Velasco-Rodríguez D,Alonso-Domínguez JM,González-Fernández FA,et al.δβ-Thalassemia trait:how can we discriminate it from β-thalassemia trait and iron deficiency anemia?[J].Am J Clin Pathol,2014,142(4):567-573.
[3] Carrocini GC,Ondei LS,Zamaro PJ,et al.Evaluation of HPFH and δβ-thalassemia mutations in a Brazilian group with high Hb F levels[J].Genet Mol Res,2011,10(4):3213-3221.
[4] Yan LAN,Chuan-Dong WEI,Wen-Cheng CHEN,et al.Association of the single-nucleotide polymorphism and haplotype of the complement receptor 1 gene with Malaria[J].Yonsei Medical Journal,2015,56(2):332-339.
[5] Cui J,Azimi M,Baysdorfer C.Application of multiplex ligation-dependent probe amplification to screen for β-globin cluster deletions:detection of two novel deletions in a multi ethnic population[J].Hemoglobin,2013,37(3):241-256.
[6] 张俊武,龙桂芳.血红蛋白与血红蛋白病[M].南宁:广西科学技术出版社.2003.
PDF(409 KB)
