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Background: IVS-II-5 G>C (HBB: c.315+5 G>C) is a rare β-thalassemia mutation. However, there is no clear evidence regarding the effect of this defect or co-inheritance of other β-thalassemia mutations on phenotypes. Methods: The clinical phenotypes associated with compound heterozygosity for the IVS-II-5 G>C mutation and other β-thalassemia mutations, together with the genetic modifiers' potential effect of the genetic modifiers α-thalassemia, were studied in 13 patients. In addition, analyses of red cell indices, hemoglobin component, iron status, and α-globin genes were carried out in 19 heterozygotes. Results: Next-generation sequencing of 24 undiagnosed patients with transfusion-dependent thalassemia (TDT) or non-transfusion-dependent thalassemia (NTDT) identified 13 carriers of the IVS-II-5 G>C mutation. There was a wide spectrum of phenotypic severity in compound heterozygotes and 6 (46.2%) of 13 were transfusion dependent. Analysis of 19 heterozygotes indicated that most were hematologically normal without appreciable microcytosis or hypochromia, and approximately half had normal hemoglobin A2 levels at the same time. Conclusion: Compound heterozygotes for IVS-II-5 G>C and other severe β-thalassemia mutations are phenotypically severe enough to necessitate appropriate therapy and counselling. Coinheritance of this nucleotide substitution with other β-thalassemia mutations may account for a considerable portion of the incidence of undiagnosed patients with NTDT and TDT in Guangxi. Therefore, the IVS-II-5 G>C mutation can pose serious difficulties in screening and counselling. [ABSTRACT FROM AUTHOR]

The inconsistency of chlorophyll content in rapeseed directly affects the quality of seed, so it is necessary to establish a rapid and nondestructive detection technology of chlorophyll in mature rapeseed. In this paper, the content of chlorophyll in rapeseed samples was determined by ultraviolet-visible spectrophotometry, and the near-infrared spectrum data were collected. The partial least squares regression model of chlorophyll content in rapeseed was established based on hyperspectral technology through first derivative and standard normal variable transformation pretreatment. The results of the cross-test showed that the determination coefficient of the validation set of the prediction model of chlorophyll content in rapeseed was greater than 0.85, and the root mean square error (RMSE) of the cross-test was less than 0.3 mg/kg. The results showed that the method could accurately predict the chlorophyll content in rapeseed and provide important technical support for rapid monitoring of seed quality. [ABSTRACT FROM AUTHOR]