Diagnosis and clinical phenotype analysis of a case with large fragment homozygous deletion of rare β gene cluster / 中华医学遗传学杂志

ABSTRACT

OBJECTIVE@#To report on a case with homozygous deletion of large β gene cluster and its clinical characteristics.@*METHODS@#A total of 71 001 peripheral blood samples were subjected to capillary electrophoresis and conventional testing for common thalassemia mutations. The genotypes of suspected β gene cluster deletions were analyzed by Gap-PCR and multiplex ligation-dependent probe amplification (MLPA). Their hematological characteristics were compared by statistical analysis R software.@*RESULTS@#Eighty-nine cases were detected with Chinese @*CONCLUSION@#The carrier rate for large fragment deletions of β gene cluster in Huizhou region is rather high, for which the value of HbF is significantly increased. Attention should be paid to screening and diagnosis of rare genotype to prevent missed diagnosis and/or misdiagnosis.