1.Predictive value of combined examination of coagulation and fibrinolysis indexes for deep venous thrombosis after proximal femoral nail anti-rotation in elderly patients with femoral intertrochanteric fracture.
Hong-Feng ZHANG ; An-Ji HE ; Xi-Lin ZHAO
China Journal of Orthopaedics and Traumatology 2025;38(4):371-377
OBJECTIVE:
To investigate the prognostic significance of combined coagulation and fibrinolysis marker analysis in predicting the development of deep venous thrombosis (DVT) following proximal femoral anti-rotation intramedullary nail (PFNA) surgery in elderly patients with intertrochanteric femur fractures.
METHODS:
A retrospective analysis was conducted on the clinical data of 80 elderly patients who underwent PFNA treatment for intertrochanteric fractures between April 2019 and April 2023. There were 26 males and 54 females. The patients' ages ranged from 60 to 85 years old, with a mean age of (76.4±5.6) years old. According to the occurrence of DVT following PFNA, patients were categorized into two groups. The DVT group were 29 patients, comprising 10 males and 19 females with a mean age of (76.9 ± 6.1)years old. And the non-DVT group were 51 patients, consisting of 16 males and 35 females with a mean age of (75.3 ± 6.9 )years old. The prothrombin time (PT), activated partial thromboplastin time(APTT), thrombin time(TT), plasma fibrinogen (FIB), plasma thrombin-antithrombin complex(TAT), and D-dimer levels were compared between the two groups immediately post- PFNA surgery, as well as at 3 and 7 days postoperatively. Pearson correlation analysis was conducted to evaluate the relationship between plasma FIB, TAT, and D-dimer levels in patients who developed DVT. Multivariate logistic regression analysis was employed to assess the association between each coagulation and fibrinolysis index following PFNA surgery in elderly patients and the incidence of DVT. The area under the receiver operating characteristic (ROC) curve (AUC) was utilized to determine the predictive value of PT, APTT, TT, FIB, TAT, and D-dimer for postoperative DVT occurrence.
RESULTS:
There were no statistically significant differences in PT, APTT, and TT between the two groups immediately post-surgery, at 3 days, and at 7 days (P>0.05). At immediately, 3 days and 7 days postoperatively in DVT group, FIB were (4.68±1.77), (6.73±2.02), (8.81±2.86) g·L-1, TAT were (10.64±2.30), (12.88±3.45), (14.96±4.87) μg·L-1 respectively. D-dimer were (635.00±100.88), (720.02±168.09), (810.47±170.19) μg· L-1, respectively.In the DVT group FIB were (3.46±0.47), (3.55±0.52), (3.67±0.48) g·L-1, TAT were (8.58±3.37), (8.69±3.48), (8.80±3.50) g·L-1, D-dimer were (588.36±96.68), (589.58±96.45), (591.11±95.50) g·L-1. The difference between the two groups was statistically significant (P<0.05). Pearson correlation analysis revealed significant positive correlations between FIB and D-dimer(r=0.428, 0.523, P<0.05), FIB and TAT(r=0.517, 0.411, P<0.05), as well as TAT and D-dimer(r=0.602, 0.596, P<0.05). Multivariate Logistic regression analysis revealed that FIB OR=3.252, 95% CI(0.640, 3.975), P<0.01, TAT OR=1.461, 95% CI(1.059, 2.011), P<0.05, and D-dimer OR=3.830, 95%CI (2.032 to 7.213), P<0.01 were significantly associated with the development of DVT following PFNA surgery. The combined detection of PT, APTT, TT, FIB, TAT, and D-dimer demonstrates significantly greater predictive value for the occurrence of DVT following PFNA surgery compared to individual index detection (P<0.01).
CONCLUSION
The combined detection of PT, APTT, TT, FIB, TAT and D-D has a high predictive value for DVT in elderly patients with femoral intertrochanteric fracture after PFNA, which is of vital importance in the early diagnosis of DVT and early prevention of pulmonary embolism and other serious complications.
Humans
;
Male
;
Female
;
Venous Thrombosis/diagnosis*
;
Aged, 80 and over
;
Aged
;
Fibrinolysis
;
Retrospective Studies
;
Blood Coagulation
;
Hip Fractures/blood*
;
Fracture Fixation, Intramedullary/adverse effects*
;
Middle Aged
;
Postoperative Complications/blood*
;
Bone Nails/adverse effects*
2.Mechanism analysis of platelet activation induced by V. vulnificus hemolysin.
Yan WANG ; Zihan FENG ; Yaru WANG ; Shiqing LI ; Xin CHEN ; Jinglin WANG ; Yuan YUAN
Chinese Journal of Cellular and Molecular Immunology 2025;41(2):134-142
Objective To evaluate whether Vibrio vulnificus secreted exotoxin-hemolysin (VVH) can activate platelet, an important blood immune cell, and to explore the possible molecular mechanism of platelet activation by VVH. Methods Transcriptomics and immunohistochemistry were used to analyze whether Vibrio vulnificus infection caused platelet activation in mice. Then, flow cytometry was used to identify whether VVH was the main stimulator of platelet activation. Naturally expressed VVH toxin was purified and prepared. The effects of extracellular and intracellular Ca2+ signal inhibitors on VVH activated platelets were evaluated by flow cytometry and Western blotting. The immune activation effect of VVH in the early stage of Vibrio vulnificus infection was analyzed in vivo. Results VVH was the main stimulator of platelet activation in Vibrio vulnificus culture supernatant. Natural VVH can induce the increase of P-selectin (CD62P) on platelet surface, the formation of platelet-neutrophil complex (PNC), and the release of platelet microvesicles. The activation mechanism may be related to the VVH pore-dependent Ca2+-calmodulin (CaM) -myosin light chain kinase (MLCK) signaling pathway, which led to the release of platelet alpha particles and cascade activation of platelets. In a mouse model of ALD infected by Vibrio vulnificus gavage, VVH was strongly associated with platelet activation. Conclusion This study shows that VVH is an important platelet activating molecule in the early stage of Vibrio vulnificus infection, and its induction of platelet activation may be related to the pathogenic process.
Animals
;
Platelet Activation/drug effects*
;
Hemolysin Proteins/pharmacology*
;
Vibrio vulnificus/metabolism*
;
Mice
;
Blood Platelets/drug effects*
;
Vibrio Infections/immunology*
;
P-Selectin/metabolism*
;
Bacterial Proteins
;
Female
3.Coagulation profile PT, FBG, FDP, D-D as disease predictors of RA and pSS inflammatory immunity.
Wenwen MIN ; Lei WAN ; Feng LI ; Yu ZHANG ; Ying WANG ; Siyu LIANG
Chinese Journal of Cellular and Molecular Immunology 2025;41(10):895-904
Objective To explore the expression of coagulation indexes in rheumatoid arthritis (RA) and dry syndrome (pSS) and their relationships with inflammation and immune function. Methods A total of 61 patients with RA who were hospitalized in the Department of Rheumatology of Anhui Provincial Hospital of Traditional Chinese Medicine from March 12 to September 9, 2024 were selected as the RA group. And 61 patients with pSS who were hospitalized in the Department of Rheumatology of the same hospital September 4, 2023, to August 17, 2024, were selected as the pSS group. 61 healthy individuals who underwent routine medical checkups at the Physical Examination Center of Anhui Provincial Hospital of Traditional Chinese Medicine during the same period were included as the control group. Baseline clinical indexes before treatment were collected from patients in each group, including prothrombin time(PT), international normalized ratio(INR), thrombia time(TT), fibrinogen(FBG), activated partial thromboplastin time(APTT), fibrin (ogen) degradation products(FDP) and D-Dimer(D-D). Results The expression levels of PT, FBG, TT, FDP, and D-D in the RA group, the pSS group, and the normal group were significantly different. The expression levels of PT, FBG, FDP, and D-D in the RA group were all higher than those in the pSS group and the control group, respectively. And the expression level of TT in the pSS group was lower than that in control group. ROC curve analysis showed that the AUC of PT was 0.638, the AUC of FBG was 0.899, the AUC of FDP was 0.866, and the AUC of D-D was 0.919 in the RA group compared with the normal group. And the AUC of coagulation indexes for joint diagnosis of RA was higher than that of the indexes detected individually. pSS group had an AUC of PT of 0.618 compared with that of the normal group. The AUC of TT was 0.645, and the AUC of coagulation indexes for the joint diagnosis of pSS was higher than the AUC of each index detected separately. Association rule analysis showed that elevated D-D in RA patients had a significant correlation with elevated hs-CRP, CCP and RF, and elevated FBG had a significant correlation with elevated hs-CRP, ESR, RF and CCP. Elevated D-D in pSS patients had a correlation with elevated hs-CRP and anti-SSA, and elevated INR has correlation with elevated hs-CRP, anti-SSA and anti-SSB. Correlation analysis showed that PT, INR, FBG, FDP, and D-D were positively correlated with CRP and ESR, and TT was negatively correlated with CRP and ESR in the RA group. FBG, FDP, and D-D were positively correlated with CRP and ESR in the pSS group. Moreover, coagulation indexes were positively correlated with immune indexes in RA group and pSS group which were all significant. The results of multiple linear regression analysis showed that FBG was a positive correlate of hs-CRP and ESR in RA patients. For PSS patients, FBG and FDP were positive correlates of hs-CRP. APTT and FBG were positive correlates of ESR. Conclusion Compared with pSS, coagulation indexes (especially PT, FBG, FDP and D-D) are more informative for the early diagnosis of RA and the judgment of the degree of the disease, and can be used as an important predictor for the confirmation of the diagnosis of RA.
Humans
;
Female
;
Male
;
Arthritis, Rheumatoid/diagnosis*
;
Middle Aged
;
Fibrin Fibrinogen Degradation Products/analysis*
;
Blood Coagulation
;
Adult
;
Fibrinogen/metabolism*
;
Partial Thromboplastin Time
;
Prothrombin Time
;
Aged
;
Inflammation/immunology*
;
ROC Curve
4.Research progress in the mechanism and treatment of post traumatic platelet dysfunction.
Kai LI ; Peixin WANG ; Kun WEI ; Jia LIU ; Xue BAI ; Tiantao ZHANG ; Chen ZHANG ; Shihong XU
Chinese Journal of Cellular and Molecular Immunology 2025;41(11):1041-1046
Trauma is the main cause of death and disability. Patients with severe trauma have hemorrhagic shock, traumatic coagulopathy and other diseases, which increase the risk of death. Platelets are important in the hemostatic response, but their function is rapidly dysregulated in trauma patients, leading to traumatic coagulopathy, blood loss, and early death. In addition to their role in hemostasis, platelets act as coordinators of the initial immune response, which can lead to immunothrombosis, organ dysfunction, and increased late mortality. At present, the treatment of post traumatic platelet dysfunction is mainly based on early hemostasis, and late prevention and treatment of thrombosis and organ dysfunction. In this review, the characteristics, underlying mechanisms, diagnosis and treatment strategies of platelet dysfunction in different periods are summarized, to provide ideas for studying the mechanism of platelet dysfunction after trauma and the treatment strategy for trauma patients.
Humans
;
Wounds and Injuries/therapy*
;
Blood Platelets/metabolism*
;
Blood Platelet Disorders/etiology*
;
Animals
;
Hemostasis
5.Application value of thromboelastography in assessing coagulation function in children with severe hemophilia A after emicizumab therapy: a single-center study.
Dong PENG ; Ying WANG ; Gui-Chi ZHOU ; Qian LI ; Mei-Zhu LUO ; Li-Ping LUO ; Ya-Xian KUANG ; Xiao-Ying FU
Chinese Journal of Contemporary Pediatrics 2025;27(3):293-299
OBJECTIVES:
To investigate the application value of thromboelastography (TEG) in assessing coagulation function in children with severe hemophilia A (HA) after emicizumab (EMI) therapy.
METHODS:
A retrospective analysis was performed on the activated partial thromboplastin time (APTT) and TEG testing results of 17 children with severe HA before and after EMI treatment at Shenzhen Children's Hospital from January 2023 to July 2024. Correlation analysis was conducted between coagulation factor VIII (FVIII) equivalent activity and reaction time (R value) measured by TEG.
RESULTS:
After EMI treatment, the mean bleeding rate for children with severe HA was 1.6 events per year, with 15 children (88%) without spontaneous bleeding or joint bleeding. The children with severe HA showed a significant reduction in APTT after EMI treatment (P<0.05), with a significantly shorter APTT than the normal control group (P<0.05). There was no correlation between APTT and FVIII equivalent activity after treatment (P>0.05). After EMI treatment, TEG parameters, including R value, kinetic time, alpha angle (α), maximum amplitude, clot strength, and coagulation index, shifted from a hypocoagulable state before treatment to a nearly normal state after treatment (P<0.05). The R value demonstrated a strong negative correlation with FVIII equivalent activity (r=-0.758, P<0.05).
CONCLUSIONS
The bleeding condition of children with severe HA can be effectively controlled after EMI treatment. Routine APTT testing cannot reflect true coagulation function, whereas TEG testing is clinically valuable in assessing the coagulation function of children with severe HA undergoing EMI treatment.
Humans
;
Thrombelastography
;
Hemophilia A/physiopathology*
;
Male
;
Child
;
Antibodies, Bispecific/therapeutic use*
;
Antibodies, Monoclonal, Humanized/therapeutic use*
;
Blood Coagulation/drug effects*
;
Child, Preschool
;
Retrospective Studies
;
Female
;
Partial Thromboplastin Time
;
Adolescent
;
Infant
6.Significance of HALP Score as a Prognostic Indicator for Newly Diagnosed Multiple Myeloma.
Kuan-Shun ZHANG ; Dian-Liang LYU ; Lin SHI
Journal of Experimental Hematology 2025;33(2):442-446
OBJECTIVE:
To investigate the significance of HALP score as a prognostic indicator for newly diagnosed multiple myeloma (MM).
METHODS:
Clinical data of 62 newly diagnosed MM patients in our hospital from January 2020 to December 2022 were collected and retrospectively analyzed. The difference in age, sex, DS stage, R-ISS stage, M protein type, serum creatinine (Scr), β2-microglobulin (β2-MG), blood calcium, lactate dehydrogenase (LDH), hemoglobin (Hb), albumin (ALB), platelet count (PLT), and absolute lymphocyte count (ALC) between patients with low and high HALP scores were analyzed. The prognostic value of the above indexes in newly diagnosed MM patients was analyzed by univariate and multivariate analysis.
RESULTS:
The optimal cut-off value of HALP score was 41 determined by X-tile software. Based on this, 62 patients were divided into a high HALP group (HALP>41, n=25) and a low HALP group (HALP≤41, n=37). The proportion of patients with Hb≥100 g/L in the high HALP group was significantly higher than that in the low HALP group (P <0.05). The median overall survival (OS) time of patients in the high HALP group and low HALP group were 29 (9-39) months and 20 (4-29) months, respectively, with statistically significant difference between the two groups (P <0.01). Univariate analysis showed that R-ISS stage, ALB, Hb, ALC and HALP were closely related to the prognosis of patients (P <0.05). COX regression multivariate analysis showed that R-ISS stage Ⅲ (HR=4.443, 95%CI : 1.480-13.343,P =0.008) and HALP≤41(HR=8.823, 95%CI : 1.858-41.910,P =0.006) were independent risk factors for shortened OS in newly diagnosed MM patients. The median OS of patients with high HALP at R-ISS stage Ⅲ was significantly higher than that of patients with low HALP at the same stage, and the difference was statistically significant (P <0.05).
CONCLUSION
HALP score can be used as a prognostic indicator for newly diagnosed MM patients.
Humans
;
Multiple Myeloma/diagnosis*
;
Prognosis
;
Retrospective Studies
;
Male
;
Female
;
Middle Aged
;
Aged
;
beta 2-Microglobulin
;
Lymphocyte Count
7.Expression and Correlation of Serum MCV, MPV and WT-1 in Elderly Patients with MDS.
Huan-Ying LI ; Jun-Xia WANG ; Fei GUO ; Ai-Hua CHENG
Journal of Experimental Hematology 2025;33(2):475-480
OBJECTIVE:
To investigate the expression levels and combined detection efficiency of serum mean corpuscular volume (MCV), mean platelet volume (MPV), and tumor gene ( WT-1) in elderly patients with myelodysplastic syndrome (MDS).
METHODS:
One hundred elderly MDS patients admitted to our hospital from January 2020 to January 2021 were selected as observation group, and eighty healthy subjects during the same period were selected as control group. The levels of MCV, MPV and WT-1 were detected, and receiver operating characteristic (ROC) curve was drawn to analyze the value of combined detection of the three indicators in the prediction of MDS. The expression and correlation of MCV, MPV and WT-1 in elderly patients with MDS were analyzed and evaluated.
RESULTS:
The levels of MCV, MPV, and WT-1 in the observation group were higher than those in the control group (all P <0.001). Pearson correlation analysis showed that MCV was positively correlated with MPV and WT-1 (r =0.724, 0.733), while MPV was positively correlated with WT-1 (r =0.731). MCV, MPV, and WT-1 were independent influencing factors for elderly MDS (all P <0.05). The combined detection of the three indicators had the largest area under the curve (AUC) (0.873, 95%CI : 0.776-0.893) in the diagnosis of elderly MDS, with a sensitivity of 95.00%, a specificity of 90.00%, and Youden index of 0.850. The diagnostic value was significantly higher than that of a single indicator (both P <0.05). The levels of MCV, MPV, and WT-1 in severe patients were significantly higher than those in mild patients (all P <0.01). Logistic regression analysis showed that high expression of MCV, MPV, and WT-1 were influencing factors of severe elderly MDS. The ROC curve analysis showed that the combined diagnosis of MCV, MPV and WT-1 had the largest AUC for predicting severe MDS in elderly patients (0.897, 95%CI : 0.709-0.926), and the sensitivity and specificity were 93.18% and 91.07%, respectively (P <0.05).
CONCLUSION
MCV, MPC, and WT-1 are highly expressed in elderly patients with severe MDS. These three indicators can reflect the bone marrow hematopoietic function status of the subjects. However, compared with single indicator detection, the combined detection of the three indicators is more effective in diagnosis. It has certain advantages in elderly MDS and disease staging, and its promotion and application value is higher.
Humans
;
Myelodysplastic Syndromes/blood*
;
Aged
;
WT1 Proteins/blood*
;
Mean Platelet Volume
;
Erythrocyte Indices
;
ROC Curve
;
Male
;
Female
8.Analysis of Genetic Test Results and Red Blood Cell Parameters of β-Thalassemia in Kunming Area.
Xiao-Lu GUO ; Ya-Min WU ; Yan-Liang ZHANG
Journal of Experimental Hematology 2025;33(2):481-485
OBJECTIVE:
To investigate the gene carrier rate and genotype distribution characteristics of thalassemia in the population of Kunming, and compare the differences of red blood cell (RBC) parameters between β+ heterozygous carriers, β0 heterozygous carriers and healthy population, as well as between different sexes of adults aged 18-45 years.
METHODS:
A retrospective analysis of 3 195 cases of thalassemia gene screened in the First Affiliated Hospital of Kunming Medical University from April 1, 2020 to March 31, 2022 was performed to detect 21 mutations of β-globin genes which was common in Chinese people using fluorescence PCR melting curve method. Patients with single heterozygous carrying β-thalassemia gene were divided into β+ heterozygote group and β0 heterozygote group, while the control group consisted of 219 healthy individuals. Four indices, including RBC, hemoglobin (Hb), mean corpuscular volume (MCV), and mean corpuscular hemoglobin (MCH) were collected from all β heterozygous carriers and 219 healthy people, and compared between β+ heterozygote group, β0 heterozygote group and control group, as well as between β+ heterozygous carriers, β0 heterozygous carriers and healthy population of different sexes aged 18-45 years.
RESULTS:
There were 688 cases confirmed thalassemia gene carriers, accounting for 21.53%. Among them, 322 cases were found to have β-globin gene mutations, including 145 cases of β+ heterozygote, 151 cases of β0 heterozygote, and 14 cases of β+ homozygotes as well as β+ and β0 dual heterozygotes. Additionally, 12 cases were found to have simultaneous mutation or deletion of β-globin and α-globin. The carrier rate of CD26 G>A mutation in β+ thalassemia was the highest, accounting for 57.9%, while in β0 thalassemia CD17 A>T was the highest, accounting for 46.4%. The erythrocyte parameters of 296 β heterozygous mutation carriers were compared with the normal reference interval, and it was found that 218 cases with RBC value greater than the highest value of reference interval, while 105, 281, and 269 cases with Hb, MCV, and MCH value less than the lowest value of reference interval, respectively. There were significant differences in the 4 erythrocyte parameters between β+ heterozygotes, β0 heterozygotes and healthy individuals (all P < 0.001), and further comparison between different sexes also showed significant differences (all P < 0.001).
CONCLUSIONS
The carrier rates of thalassemia gene and β-thalassemia heterozygote are both at high level in Kunming, and there are significant differences in the erythrocyte parameters between β+ heterozygous carriers, β0 heterozygous carriers and healthy individuals. When genetic counseling, it is necessary to inform and strengthen screening among adults of marriageable age to prevent birth of children with severe thalassemia.
Humans
;
beta-Thalassemia/blood*
;
Adult
;
Heterozygote
;
Male
;
Female
;
beta-Globins/genetics*
;
Retrospective Studies
;
Middle Aged
;
Mutation
;
Adolescent
;
Genotype
;
Erythrocytes
;
Erythrocyte Indices
;
Young Adult
;
China
;
Genetic Testing
;
Asian People/genetics*
9.Construction and Validation of a Prognostic Nomogram Model for Chronic Myeloid Leukemia Patients.
Li-Ying LIU ; Zheng GE ; Ji-Feng WEI ; Li-Na ZHAO ; Zhi-Mei CAI
Journal of Experimental Hematology 2025;33(3):745-752
OBJECTIVE:
To screen factors affecting the prognosis of chronic myeloid leukemia (CML) patients, and construct a nomogram model for event-free survival (EFS).
METHODS:
To screen out meaningful variables by univariate and multivariate Cox regression analysis in CML patients, and construct a nomogram model using R software. The nomogram was validated using consistency index (C-index), receiver operating characteristic (ROC) curve, area under the ROC curve (AUC), calibration curve, decision curve analysis (DCA), and risk stratification analysis.
RESULTS:
This study analyzed data from 116 CML patients. Univariate and multivariate Cox regression analysis demonstrated that age, peripheral blood basophil percentage, BCR-ABL1 IS at 3 months, and red blood cell distribution width (RDW) were independent prognostic factors of EFS. Subsequently, a nomogram was constructed based on the above predictors. The C-index of the nomogram was 0.733(95%CI : 0.676-0.790). The AUC values for predicting 1-, 3-, and 5-year EFS rate were 0.765, 0.855, and 0.827, respectively. The results of the calibration curve and DCA curve showed that the predictive model had good consistency, as well as strong clinical utility. The patients were stratified into high-risk group and low-risk group based on the total score of the model, there was a significant difference in EFS between the two groups (P < 0.001).
CONCLUSION
Age, peripheral blood basophil percentage, BCR-ABL1 IS at 3 months, and RDW were associated with the prognosis of CML patients. The nomogram model constructed in this study can accurately predict the prognostic status of CML patients, but its widespread application still requires external and prospective validation.
Nomograms
;
Leukemia, Myelogenous, Chronic, BCR-ABL Positive/mortality*
;
Proportional Hazards Models
;
Erythrocyte Indices
;
Risk Assessment/methods*
;
Fusion Proteins, bcr-abl/genetics*
;
Basophils
;
Leukocyte Count
;
Humans
10.The Effect of p.Thr241Asn and p.Cys389Gly Mutations on Coagulation Factor VII Structure and Function.
Journal of Experimental Hematology 2025;33(3):853-857
OBJECTIVE:
To identify F7 gene mutations in one pedigree with congenital coagulation factor VII (FVII) deficiency and explore the effect of F7 gene mutations on the structure and function of FVII.
METHODS:
Prothrombin time (PT) and activated partial thromboplastin time (APTT) were measured based on the one-stage assay, and PT-based one stage assay was used to detect the activity of FII, V, VII and X. Genomic DNA was extracted from the peripheral blood of family members. The sequences of all the exons and exon-intron boundaries of F7 were amplified by polymerase chain reaction (PCR) using specific primers followed by Sanger sequencing. PolyPhen-2, PROVEAN and Swiss-Pdb Viewer software were used to analyze the effect of mutations on the structure and function of FVII.
RESULTS:
The proband had a prolonged PT (33.8 s) due to low FVII activity (6.6%) and normal APTT, and had a history of epistaxis. The proband's mother and father displayed a slightly prolonged PT (13.2 and 13.9 s, respectively), and their FVII activity was 40.3% and 38.3%, respectively. The compound heterozygous c.722C>A (p.Thr241Asn) in exon 7 and c.1165T>G (p.Cys389Gly) in exon 8 of F7 gene were identified in the proband, and inherited from his father and mother, respectively. The p.Thr241Asn and p.Cys389Gly missense change were likely to have a damaging effect predicted by polyphen-2 and PROVEAN software. In silico modeling analysis showed that there was one hydrogen bond formed between wild-type Thr241 and Val249, two hydrogen bonds formed between mutant Asn241 and Val249 and between mutant Asn241 and Leu242, as well as one hydrogen bond and one disulfide bond formed between wild-type Cys389 and Leu370 and between wild-type Cys389 and Cys375, respectively. The hydrogen bond formed between mutant Gly389 and Leu370 and disulfide bond formed between mutant Gly389 and Cys375 both broke.
CONCLUSIONS
FVII deficiency in this family is caused by p.Thr241Asn and p.Cys389Gly mutation. In silico modeling may be a valuable tool for understanding amino acid residues from variants leading to congenital FVII deficiency.
Humans
;
Factor VII/genetics*
;
Mutation
;
Pedigree
;
Factor VII Deficiency/genetics*
;
Prothrombin Time
;
Partial Thromboplastin Time
;
Male
;
Female

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