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
Anemia, Hypochromic/genetics* ; Codon, Initiator/genetics* ; Female ; Genetic Counseling ; Genetic Variation ; Genotype ; Humans ; Male ; Mutation ; Pregnancy ; Prenatal Diagnosis ; alpha-Globins/genetics* ; alpha-Thalassemia/genetics*

Objective To explore the killing mechanism induced by Coxsackievirus A16 (CV-A16) in primary muscle cells of gerbils, and to lay the foundations for elucidation the pathogenesis of CV-A16 and the further application of gerbil model. Methods The primary muscle cell model was established by digestion of trypsase/collagenase double enzyme hydrolysis. Primary muscle cells were infected by different dose of CV-A16 and the cell viability was detected by CCK-8 assays. Chromatin condensation and break were measured by Hoechst 33258 staining. The early and last stage of apoptosis cells were measured by AnnexinV/PI double staining. Expression changes of Caspase-3, Caspase-8, JNK and NF-κB pathway proteins were detected by Western Blot. Results The cell viability were 88.95％ and 64.05％ at groups of different multiplicity of infection (MOI=0.50 and 1.00), which was significantly different from those of the negative control group. The cell viability and multiplicity of infection were negative correlation (rs=-0.857, P=0.014) . The apoptosis rates were 7.2％, 21.8％ and 50.7％ at MOI=0.01,0.10 and 1.00 groups, respectively. The apoptosis rate and MOI were positive correlation (rs=1.000, P<0.001) . When the primary cells were infected by CV-A16, cleavage of Caspase-3 and Caspase-8 were detected. Western Blot assays showed that the expression of NF-κB pathway proteins IκBα, p65 and p-p65 were reduced, which was different in enterovirus 71-infected cells. The JNK kinase was actived. Conclusion CV-A16 could induce apoptosis in primary muscle cells from gerbils.

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.