Objective This study was aimed at investigating the carrier rate of,and molecular variation in,α-andβ-globin gene mutations in Hunan Province.Methods We recruited 25,946 individuals attending premarital screening fr...Objective This study was aimed at investigating the carrier rate of,and molecular variation in,α-andβ-globin gene mutations in Hunan Province.Methods We recruited 25,946 individuals attending premarital screening from 42 districts and counties in all 14 cities of Hunan Province.Hematological screening was performed,and molecular parameters were assessed.Results The overall carrier rate of thalassemia was 7.1%,including 4.83%forα-thalassemia,2.15%forβ-thalassemia,and 0.12%for bothα-andβ-thalassemia.The highest carrier rate of thalassemia was in Yongzhou(14.57%).The most abundant genotype ofα-thalassemia andβ-thalassemia was-α^(3.7)/αα(50.23%)andβ^(IVS-Ⅱ-654)/β^(N)(28.23%),respectively.Fourα-globin mutations[CD108(ACC>AAC),CAP+29(G>C),Hb Agrinio and Hb Cervantes]and sixβ-globin mutations[CAP+8(C>T),IVS-Ⅱ-848(C>T),-56(G>C),beta nt-77(G>C),codon 20/21(-TGGA)and Hb Knossos]had not previously been identified in China.Furthermore,this study provides the first report of the carrier rates of abnormal hemoglobin variants andα-globin triplication in Hunan Province,which were 0.49%and 1.99%,respectively.Conclusion Our study demonstrates the high complexity and diversity of thalassemia gene mutations in the Hunan population.The results should facilitate genetic counselling and the prevention of severe thalassemia in this region.展开更多
<strong>Objective:</strong> To preliminary study the significance of low molecular weight heparin (LMWH) in the treatment patients of with anemia of chronic diseases (ACD), and the changes in the serum lev...<strong>Objective:</strong> To preliminary study the significance of low molecular weight heparin (LMWH) in the treatment patients of with anemia of chronic diseases (ACD), and the changes in the serum levels of BMP6, hepcidin and IL-6. To preliminary study the significance of low molecular weight heparin (LMWH) in the treatment the patients with anemia of chronic diseases (ACD), and the changes in the serum levels of BMP6, hepcidin and IL-6. <strong>Methods:</strong> Used LMWH (4000 u/day, 7 - 15 days) to therapy 61 patients with ACD, and ELISA method was used to determine Hepcidin and BMP6 before and after treatment, and the determination of IL-6 by Electro-chemi-luminescence, and to analyze its clinical significance. <strong>Results:</strong> 1) In all 61 cases, the levels of Hepcidin in post-therapy were 0.82 ± 0.24 mg/L, which were lower than 1.05 ± 3.83 mg/L in pre-therapy (t = 2.5726, <em>P</em> < 0.05). The levels of IL-6 in post-therapy were 24.88 ± 12.58 mg/L, which were lower than 38.22 ± 31.23 mg/L in pre-therapy (t = 2.9650, <em>P</em> < 0.05), but there were no statistically significant both Hb and BMP6 between in pre-therapy and post-therapy (all <em>P</em> > 0.05). However, The levels of Hb in post-therapy were higher than in pre-therapy (t = 1.9832, <em>P</em> < 0.05). 2) The Hb level in the tumor anemia group after treatment was 91.18 ± 15.91 g/L, which was higher than that before treatment (85.45 ± 18.33 g/L), the difference was statistically significant (t = 1.9711, <em>P</em> < 0.05). 3) The levels of hepcidin and IL-6 in the tumor anemia group after treatment were 0.73 ± 0.45 mg/L and 30.33 ± 28.39 mg/ml, which were lower than those before treatment (1.09 ± 0.41 mg/L and 50.76 ± 42.10 mg/ml), respectively, the difference was statistically significant (t = 3.3941, <em>P </em>< 0.01 and t = 2.3597, <em>P</em> < 0.05). 4) There was no significant difference in all indexes in tumor anemia free group (all <em>P</em> > 0.05). 5) Although Hb level increased slightly in the non-tumor anemia group, there was no statistical significance (<em>P</em> > 0.05), and there was no statistical difference in other indexes (all <em>P</em> > 0.05). 6) After treatment, the level of Hb was negatively correlated with Hepcidin and IL-6 (respectively r = -0.2809, t = 2.2490, <em>P</em> < 0.05 and r = -0.2781, t = 2.2266, <em>P</em> < 0.05). Hepcidin was positively related to IL-6 (r = -0.2941, t = 2.3622, <em>P</em> < 0.05). There was no correlation between BMP6 and Hb, Hepcidin and IL-6 levels. <strong>Conclusion:</strong> LMWH could up-regulate the levels of Hb, and better for the degree of anemia in patients with ACD. The possible mechanism is to reduce the level of Hepcidin and IL-6.展开更多
The interaction between [Hg（SCN）4]^2- and hemoglobin （Hb） under conditions that simulate a physiological environment was investigated by UV-vis spectroscopy, fluorescence spectroscopy, resonance Rayleigh scatteri...The interaction between [Hg（SCN）4]^2- and hemoglobin （Hb） under conditions that simulate a physiological environment was investigated by UV-vis spectroscopy, fluorescence spectroscopy, resonance Rayleigh scattering （RRS） spectroscopy and circular dichroism （CD） spectroscopy. The results obtained from the change of UV-vis and CD spectra, the quenching of Hb fluorescence and the enhancement of RRS intensity proved that a 10：1 type complex was formed between [Hg（SCN）4]^2- and Hb. The possible mechanism suggested for the interaction was that ten Hg（SCN）4]^2- anions entered the four subunits of a Hb molecule to react with some residues to form an adduct by coordination and electrostatic forces. The coordination of [Hg（SCN）4]^2- with Trp was the major cause of the fluorescence quenching of Hb.展开更多
基金supported by the National Key Research and Development Program of China[2021YFC1005300]the science and technology innovation Program of Hunan Province—Major Scientific and Technological Projects for Collaborative Prevention and Control of Birth Defects in Hunan Province[2019SK1010 and 2019SK1011]Hunan Province Clinical Medical Technology Innovation Guidance Project"Screening,prevention and control of single gene disease carriers and panel research in childbearing age people in Hunan Province"[2021SK50602].
文摘Objective This study was aimed at investigating the carrier rate of,and molecular variation in,α-andβ-globin gene mutations in Hunan Province.Methods We recruited 25,946 individuals attending premarital screening from 42 districts and counties in all 14 cities of Hunan Province.Hematological screening was performed,and molecular parameters were assessed.Results The overall carrier rate of thalassemia was 7.1%,including 4.83%forα-thalassemia,2.15%forβ-thalassemia,and 0.12%for bothα-andβ-thalassemia.The highest carrier rate of thalassemia was in Yongzhou(14.57%).The most abundant genotype ofα-thalassemia andβ-thalassemia was-α^(3.7)/αα(50.23%)andβ^(IVS-Ⅱ-654)/β^(N)(28.23%),respectively.Fourα-globin mutations[CD108(ACC>AAC),CAP+29(G>C),Hb Agrinio and Hb Cervantes]and sixβ-globin mutations[CAP+8(C>T),IVS-Ⅱ-848(C>T),-56(G>C),beta nt-77(G>C),codon 20/21(-TGGA)and Hb Knossos]had not previously been identified in China.Furthermore,this study provides the first report of the carrier rates of abnormal hemoglobin variants andα-globin triplication in Hunan Province,which were 0.49%and 1.99%,respectively.Conclusion Our study demonstrates the high complexity and diversity of thalassemia gene mutations in the Hunan population.The results should facilitate genetic counselling and the prevention of severe thalassemia in this region.
文摘<strong>Objective:</strong> To preliminary study the significance of low molecular weight heparin (LMWH) in the treatment patients of with anemia of chronic diseases (ACD), and the changes in the serum levels of BMP6, hepcidin and IL-6. To preliminary study the significance of low molecular weight heparin (LMWH) in the treatment the patients with anemia of chronic diseases (ACD), and the changes in the serum levels of BMP6, hepcidin and IL-6. <strong>Methods:</strong> Used LMWH (4000 u/day, 7 - 15 days) to therapy 61 patients with ACD, and ELISA method was used to determine Hepcidin and BMP6 before and after treatment, and the determination of IL-6 by Electro-chemi-luminescence, and to analyze its clinical significance. <strong>Results:</strong> 1) In all 61 cases, the levels of Hepcidin in post-therapy were 0.82 ± 0.24 mg/L, which were lower than 1.05 ± 3.83 mg/L in pre-therapy (t = 2.5726, <em>P</em> < 0.05). The levels of IL-6 in post-therapy were 24.88 ± 12.58 mg/L, which were lower than 38.22 ± 31.23 mg/L in pre-therapy (t = 2.9650, <em>P</em> < 0.05), but there were no statistically significant both Hb and BMP6 between in pre-therapy and post-therapy (all <em>P</em> > 0.05). However, The levels of Hb in post-therapy were higher than in pre-therapy (t = 1.9832, <em>P</em> < 0.05). 2) The Hb level in the tumor anemia group after treatment was 91.18 ± 15.91 g/L, which was higher than that before treatment (85.45 ± 18.33 g/L), the difference was statistically significant (t = 1.9711, <em>P</em> < 0.05). 3) The levels of hepcidin and IL-6 in the tumor anemia group after treatment were 0.73 ± 0.45 mg/L and 30.33 ± 28.39 mg/ml, which were lower than those before treatment (1.09 ± 0.41 mg/L and 50.76 ± 42.10 mg/ml), respectively, the difference was statistically significant (t = 3.3941, <em>P </em>< 0.01 and t = 2.3597, <em>P</em> < 0.05). 4) There was no significant difference in all indexes in tumor anemia free group (all <em>P</em> > 0.05). 5) Although Hb level increased slightly in the non-tumor anemia group, there was no statistical significance (<em>P</em> > 0.05), and there was no statistical difference in other indexes (all <em>P</em> > 0.05). 6) After treatment, the level of Hb was negatively correlated with Hepcidin and IL-6 (respectively r = -0.2809, t = 2.2490, <em>P</em> < 0.05 and r = -0.2781, t = 2.2266, <em>P</em> < 0.05). Hepcidin was positively related to IL-6 (r = -0.2941, t = 2.3622, <em>P</em> < 0.05). There was no correlation between BMP6 and Hb, Hepcidin and IL-6 levels. <strong>Conclusion:</strong> LMWH could up-regulate the levels of Hb, and better for the degree of anemia in patients with ACD. The possible mechanism is to reduce the level of Hepcidin and IL-6.
基金supported by the National Natural Science Foundation of China(No.20875078)
文摘The interaction between [Hg（SCN）4]^2- and hemoglobin （Hb） under conditions that simulate a physiological environment was investigated by UV-vis spectroscopy, fluorescence spectroscopy, resonance Rayleigh scattering （RRS） spectroscopy and circular dichroism （CD） spectroscopy. The results obtained from the change of UV-vis and CD spectra, the quenching of Hb fluorescence and the enhancement of RRS intensity proved that a 10：1 type complex was formed between [Hg（SCN）4]^2- and Hb. The possible mechanism suggested for the interaction was that ten Hg（SCN）4]^2- anions entered the four subunits of a Hb molecule to react with some residues to form an adduct by coordination and electrostatic forces. The coordination of [Hg（SCN）4]^2- with Trp was the major cause of the fluorescence quenching of Hb.
