ABSTRACT
<p><b>OBJECTIVE</b>To explore the feasibility of using next-generation sequencing technology (NGS) to screen the neonatal thalassemia genes.</p><p><b>METHODS</b>Plantar blood of 206 cases of neonatal born in our hospital were randomly collected to be made into dried blood, which can be screened for thalassemia genes by next-generation sequencing, and then a further analysis would be performed on the basis on the detection results.</p><p><b>RESULTS</b>In 206 cases of neonates tested, the thalassemia gene mutations in 22 cases were screened, including 11 cases of alpha-thalassemia, 11 cases of beta-thalassemia, 5 cases of new mutations. Out of 11 cases of alpha-thalassemia 7 cases were proved to be the gene deletion, accounting for 64% (7/11), and the specific genotype distribution was as follows: 4 cases of αα/-α(3.7), 2 cases of αα/-SEA, 1 case of αα/-α(4.2), the remaining 4 cases with point mutations (4/11, 36%): Hb Part-Dieu hybrid, Hb Quong Sze hybrid, Hb Westmead hybrid, HBA1: c. 95 + 9 c > T (rewly discovered gene mutation). The whole 11 cases of β-thalassemia are proved to be with beta chain point mutations, 7 kinds of mutation genotype were detected , CD17 (A->T) is the most common point locus mutation, accounted for 27% (3/11), and 50 G>A hybrid in 2 cases, 1 cases of Hb Hamilton hybrid, IVS-II-654 (C->T) in 1 case. The remaining 4 cases are of the new gene point mutation, they are as follows respectively: HBB: c. 316-116 c>A, HBB: c.316-248G>T, HBB: c.315 + 63 T>c, HBB: c. -23 A>G.</p><p><b>CONCLUSION</b>The next-generation sequencing technology can be used to screen neonatal plantar dried blood for the thalassemia genetic mutation, which not only can effectively detect thalassemia gene types, but also can look for new gene mutations. The advantages of this method include easy collecting samples, precise result and wide use for clinical diagnosis, thus possibly give an early diagnosis for thalassemia.</p>