A case with α-thalassemia caused by novel start codon variant in conjunct with right deletion variant of α2-globin gene / 中华医学遗传学杂志

OBJECTIVE@#The explore the genetic basis for a patient with microcytic hypochromic anemia and iron deficiency anemia.@*METHODS@#Common deletions and variants of the globin genes were detected by Gap-PCR and next generation sequencing (NGS). Suspected mutations were verified by Sanger sequencing.@*RESULTS@#Gap-PCR and NGS showed that the proband has carried a αα/-α @*CONCLUSION@#Patients with α HBA2 c.2T>A(p.Met1Lys) α/-α

Effect of high-throughput sequencing for the prevention and control of thalassemia / 中华医学遗传学杂志

OBJECTIVE@#To assess the value of next generation sequencing (NGS) for the prevention and control of thalassemia.@*METHODS@#NGS was used to sequence 3083 clinical blood samples suspected for thalassemia during initial screening. Retrospective analysis was conducted on blood samples detected with rare genotypes of thalassemia and abnormal hemoglobin.@*RESULTS@#NGS analysis of the 3083 samples has found 1089 subjects with thalassemia genotypes (alpha-thelassemia genotype: 26.01%, beta-thalassemia genotype: 6.71%, and alpha-compound-beta genotype: 2.59%), which yielded a positive detection rate of 35.32%. Rare alpha-thalassemia genotypes including HBA2 c.123delG, HBA1 c.354_355insATC and Fusion gene, and rare beta-thalassemia genotypes including HBB c.-100G>A and HBB c.316-90A>G, were discovered. In addition, 19 patients were found to have abnormal hemoglobin, mainly including Hb Hamilton, Hb Hekinan II, Hb Shizuoka, Hb Owari, Hb New York, Hb J-Bangkok and Hb Port Phillip.@*CONCLUSION@#NGS can play a crucial role for improving of the prevention and control of thalassemia and formulating a screening system with better efficacy.