Objective To further undergo sequencing analysis on a suspected prenatal diagnosed fetus of rare thalasse-mia,and to perform family molecular genetic analysis on the proband.Methods Blood routine and hemoglobin electropho-resis were used to screen thalassemia,24 thalassemia mutations were detected by gap-PCR and PCR-RDB,and gene sequen-cing analysis was carried out on suspected rare thalassemia.Results The proband was a double heterozygote for--SEA thalas-semia and α2 gene IVS-Ⅱ-119 thalassemia,and the IVS-Ⅱ-119 thalassemia gene was inherited from her mother,and the--SEA was inherited from her father.Conclusion The diagnosis of--SEA/αIVS-Ⅱ-119α HbH thalassemia child can provide scien-tific theoretical basis for genetic counseling and prenatal diagnosis of rare thalassemia.
维普
万方数据