1.Anesthetic experience of a patient with hereditary factor XI deficiency (Hemophilia C) : A case report.
Yee Suk KIM ; Eun Yong CHUNG ; Jun Rho YOON ; In Soo HAN ; Ah Reum PARK ; Tae Kwan KIM ; Chul Woo LEE
Korean Journal of Anesthesiology 2009;56(6):706-708
Factor XI deficiency (also called Hemophilia C) rarely occurs among ethnicities other than Ashkenazi Jews. A boy was scheduled for frontoethmoidectomy due to bilateral chronic rhinosinusitis. He was incidentally found to have factor XI deficiency due to prolonged aPTT on preoperative laboratory finding. His medical history reveals frequent epistaxis 2 or 3 times per day and his factor XI and XII activity were 17% (normal; 60-140%) and 34% (normal; 60-140%), respectively on furthermore laboratory evaluation. He was diagnosed as hereditary factor XI deficiency. He underwent the operation with administration of the fresh frozen plasma without complication.
Epistaxis
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Factor XI
;
Factor XI Deficiency
;
Hemophilia A
;
Humans
;
Jews
;
Plasma
2.Study on activated protein C resistance and disordered coagulation in patients with myeloproliferative neoplasms.
Jie BAI ; Yang-ping XUE ; Xian-hui XU ; Lei ZHANG ; Meng-su TIAN ; Lin SHEN ; Hong-yun ZHANG ; Ren-chi YANG
Chinese Journal of Hematology 2011;32(3):187-190
<b>OBJECTIVEb>To study the correlation of activated protein C (APC) resistance, coagulation factors and inhibitors abnormality and JAK2V617F mutation burden in patients with myeloproliferative neoplasms (MPN).
<b>METHODSb>The APC resistance was defined as the ratio of activated partial thromboplastin time (APTT) in the presence and absence of APC, i.e. APC sensitivity ratio (APCsr). Plasma protein C (PC), protein S (PS), prothrombin (FII), factor V (FV), factor VIII levels and CD11b expression on neutrophils were measured. The percentage of mutated JAK2V617F allele (V617F%) was evaluated by real time polymerase chain reaction (qRT-PCR).
<b>RESULTSb>Expression of CD11b on neutrophils was significantly elevated in MPN patients compared with that of the control group. APCsr, PS and FV levels were reduced in patients with MPN. The APCsr level was decreased mainly in patients with thrombosis and JAK2V617F mutant burden higher than 75%. APCsr was not only positively correlated with PS levels but also inversely correlated with JAK2V617F allele burden in JAK2V617F mutant gene carriers.
<b>CONCLUSIONb>The neutrophil was activated and PS, FV level were reduced in MPN patients. The APCsr level was decreased and the occurrence of relatively acquired APC resistance was found in MPN patients with thrombosis. The APCsr is correlated with the PS level and JAK2V617F mutational furden.
Activated Protein C Resistance ; metabolism ; Adolescent ; Adult ; Aged ; Blood Coagulation ; Blood Coagulation Disorders ; Factor V ; metabolism ; Female ; Humans ; Male ; Middle Aged ; Myeloproliferative Disorders ; blood ; metabolism ; Protein S ; metabolism ; Young Adult
3.Three Cases of Factor XI Deficiency.
Ji Young RHA ; Jin Hwa KOOK ; Hoon KOOK ; Sung Jin YANG ; Duck CHO ; Dong Wook RYANG ; Young Youn CHOI ; Tai Ju HWANG
Korean Journal of Pediatric Hematology-Oncology 2001;8(2):344-348
Factor XI deficiency is a very rare autosomal recessive coagulation factor deficiency, comprising 1/million in ethnic groups other than Ashkenazi Jews. The clinical manifestations are extremely variable, and generally milder than those of hemophilia A and B. We describe herewith 3 children with factor XI deficiency, who were found to have prolonged aPTT in routine laboratory studies, or in evaluation of intermittent epistaxis.
Blood Coagulation Factors
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Child
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Epistaxis
;
Ethnic Groups
;
Factor XI Deficiency*
;
Factor XI*
;
Hemophilia A
;
Humans
;
Jews
4.Hemophilic Arthropaty: A Case Report
Byeong Mun PARK ; In Hee CHUNG ; Syng Won SOHN
The Journal of the Korean Orthopaedic Association 1970;5(3):107-111
Hemophilia is a sex-linked recessive hereditary bleeding disorder occurring only in the male and transmitted by the female. This disease is characterized by a bleeding tendency due to prolonged coagulation time causing by deficiency of one of three plasma factors, such as anti-hemophilie globulin(A. H. G.), plasma thromboplastin component(P. T. C.) and plasma thromboplastin antecedent (P. T. A.) for first phase of coagulation process. The majority of hemophilia, 74% is due to a deficiency of A. H. G., 15% to a deficiency of P. T. C. and remaining 11% to a deficiency of P. T. A. as outlined in the literature. This case, 18 years old male, is complained of repeated hemorrhagic manifestations, residual deformity with stiffness of the hip and knee joints, and limping following minor trauma has developed since early childhood. Radiologically, the hip and knee joints were involved, showing the findings of typical hemophilic arthropathy. Laboratory finding showed markedly prolonged coagulation time. Diagnosis was confirmed to be plasma thromboplastin antecedent deficiency homophilia.
Congenital Abnormalities
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Diagnosis
;
Factor XI
;
Factor XI Deficiency
;
Female
;
Hemophilia A
;
Hemorrhage
;
Hip
;
Humans
;
Knee Joint
;
Male
;
Plasma
;
Thromboplastin
5.Clinical Significance of Coagulation Screening Tests and Platelet Counts in Children Undergoing Endoscopy.
Eun Hye LEE ; Hye Ran YANG ; Jae Sung KO ; Jeong Kee SEO
Korean Journal of Pediatric Gastroenterology and Nutrition 2010;13(1):23-29
PURPOSE: The aim of this study was to assess the benefits of routine pre-endoscopy coagulation screening tests and platelet counts in Korean children. METHODS: Between March 2004 and December 2009, children who underwent gastrointestinal endoscopy for the evaluation of various gastrointestinal symptoms were included. All of the subjects included in the study also underwent routine coagulation screening and platelet count determinations prior to endoscopy and biopsy. The clinical records and laboratory tests were retrospectively reviewed in all patients. RESULTS: One hundred sixty-two of 1,476 (11%) patients who underwent endoscopy had abnormal results on pre-screening coagulation tests. Fourteen patients underwent coagulation factor assays due to abnormal clotting results in consecutive tests or due to clinical evidence of a bleeding tendency. Seven patients were diagnosed with factor XII deficiency, one patient was diagnosed with von Willebrand disease, one patient had von Willebrand disease and factor XII deficiency, and one patient was presumed to have mild hemophilia. The remaining 4 patients had normal results with the factor assays. The results of platelet counts were normal with the exception of 1 patient. No patient had significant bleeding during the endoscopic procedures, despite abnormal pre-endoscopic coagulation tests. CONCLUSION: Routine coagulation screening tests and platelet counts revealed abnormal results in some patients. Most of the patients with abnormal clotting were shown to have a factor XII deficiency, which had no significant associated bleeding tendencies; the other patients were diagnosed with hemophilia or von Willebrand disease. Therefore, although abnormal pre-endoscopic coagulation is not always related to significant bleeding complications, pre-endoscopic coagulation screening may be useful in some children in predicting the risk of bleeding tendency during endoscopic procedures.
Biopsy
;
Blood Coagulation Factors
;
Blood Platelets
;
Child
;
Endoscopy
;
Endoscopy, Gastrointestinal
;
Factor XII Deficiency
;
Hemophilia A
;
Hemorrhage
;
Humans
;
Mass Screening
;
Platelet Count
;
Retrospective Studies
;
von Willebrand Diseases
6.Recent review on blood transfusion therapy.
Journal of the Korean Medical Association 2013;56(6):496-503
Blood transfusion is an essential part of medical care, but it has risks, including infectious and immunologic complications. Recent medical practice emphasizes the rationalization of transfusion according to guidelines at the national and local levels. Early transfusions used whole blood, but modern practice commonly uses only components of the blood, such as red blood cells, platelets, plasma, and clotting factors. Red blood cell transfusions are indicated to improve oxygen delivery to tissues and to treat hemorrhage. Platelet transfusion may be indicated to prevent hemorrhage in patients with thrombocytopenia or functionally abnormal platelets. Fresh frozen plasma can be used to correct coagulation abnormalities in order to normalize the fibrinogen level, prothrombin time, and activated partial thromboplastin time. Cryoprecipitate is indicated for bleeding associated with fibrinogen deficiencies, factor XIII deficiency, hemophilia A, or von Willebrand's disease. However, blood transfusion should be based on guidelines as well as the patient's clinical condition. Appropriate use of blood components results in effective transfusion therapy and reduces transfusion-related complications.
Afibrinogenemia
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Blood Platelets
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Blood Transfusion
;
Erythrocyte Transfusion
;
Erythrocytes
;
Factor XIII Deficiency
;
Fibrinogen
;
Hemophilia A
;
Hemorrhage
;
Humans
;
Oxygen
;
Partial Thromboplastin Time
;
Plasma
;
Platelet Transfusion
;
Prothrombin Time
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Rationalization
;
Thrombocytopenia
;
von Willebrand Diseases
7.A Case of Successful Treatment of Childhood Intractable Gastrointestinal Hemorrhage with Low Dose Recombinant Activated Factor VII (NovoSeven (R)).
Ji Yoon KIM ; Byung Ho CHOE ; Soonhak KWON ; Kun Soo LEE
Korean Journal of Pediatric Hematology-Oncology 2004;11(2):276-279
Recombinant activated factor VII (rFVIIa, NovoSeven (R)) was initially developed for the treatment of bleeding in patients with hemophilia having antibodies against factor VIII or IX, and factor VII deficiency. Although the precise mode of action is still elusive and there are just several hypotheses, recently case reports have suggested a role of rFVIIa in the management of intractable or life-threatening bleeding in some non-hemophilic patients who do not respond to conventional treatments. We report the successful use of rFVIIa in a pediatric patient with intractable gastrointestinal bleeding.
Antibodies
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Factor VII Deficiency
;
Factor VIIa*
;
Factor VIII
;
Gastrointestinal Hemorrhage*
;
Hemophilia A
;
Hemorrhage
;
Humans
9.Phenotype and genotype analysis for a consanguineous pedigree with combined coagulation factor VII and X deficiency.
Yanhui JIN ; Mingshan WANG ; Yingyu WANG ; Xiaoli YANG ; Lihong YANG ; Yaosheng XIE ; Haixiao XIE ; Liqing ZHU ; Fangyou YU
Chinese Journal of Medical Genetics 2014;31(1):16-20
<b>OBJECTIVEb>To identify potential mutations and explore the molecular mechanism underlying combined inherited coagulation factors VII(FVII) and X(FX) deficiency for a family featuring consanguineous marriage between maternal cousins.
<b>METHODSb>Prothrombin time (PT), activated partial thromboplastin time (APTT), fibrinogen, FVII activity (FVII:C), FX activity (FX:C), FVII antigen (FVII:Ag), FX antigen (FX:Ag) and other coagulant parameters of the proband and 5 family members were measured. Potential mutations in exons, exon-intron boundaries and 5', 3' untranslated sequences of F7 and F10 genes were screened by polymerase chain reaction and direct sequencing. Suspected mutations were confirmed by sequencing the opposite strand.
<b>RESULTSb>PT and APTT of the proband were obviously prolonged to become 76.4 s and 60.2 s, respectively. FVII:C, FVII:Ag,FX:C and FX:Ag of the proband were obviously reduced to become 4%, 6%, 6% and 33%, respectively. Both PT and APTT of her grandmother, father, mother and daughter were slightly prolonged, which have measured 16.4 s, 15.8 s,16.9 s, 16.5 s, and 44.0 s, 42.1 s, 41.1 s, 43.5 s, respectively. And their FVII:C (34%, 39%, 31%, 40%, respectively), FX:C (50%, 58%, 47%, 42%, respectively) and FX:Ag (51%, 54%, 58%, 47%, respectively) were slightly reduced, while FVII:Ag was in the normal range. The coagulant parameters of her younger brother were within normal range. Two homozygous mutations, g.11267C to T in exon 8 of F7 gene, which resulted in an Arg277Cys substitution, and g.28139G to T in exon 8 of F10 gene which led to a Val384Phe substitution, were identified in the proband. The proband's grandmother, parents and daughter were heterozygous for both Arg277Cys and Val384Phe mutationss. Wild-type alleles of both F7 and F10 genes were also found in the younger brother.
<b>CONCLUSIONb>A homozygous Arg277Cys mutation and a Val384Phe mutation have been respectively identified in the F7 and F10 genes, which can explain the low levels of FVII and FX in this family. The former has been inherited from the consanguineous parents.
Adult ; Aged ; Consanguinity ; Factor VII Deficiency ; genetics ; Factor X Deficiency ; genetics ; Female ; Genotype ; Humans ; Male ; Middle Aged ; Mutation ; Pedigree ; Phenotype
10.Bone Density Status in Bleeding Disorders: Where Are We and What Needs to Be Done?.
Hassan MANSOURITORGHABEH ; Zahra REZAIEYAZDI
Journal of Bone Metabolism 2017;24(4):201-206
Bleeding disorders, including hemophilia, can be seen in every ethnic population in the world. Among various bleeding disorders, reduced bone density has been addressed in hemophilia A. In recent years, there has been an increasing interest in addressing osteopenia and osteoporosis in hemophilia A. There is little or no study about the possible susceptibility of other individuals with bleeding disorders to reduced bone density. Questions have been raised about the role of blood coagulation factors in bone mineralization. This review provides new insight and ideas for further survey in the field of bleeding disorders and reduced bone density.
Blood Coagulation Factors
;
Bone Density*
;
Bone Diseases, Metabolic
;
Calcification, Physiologic
;
Hemophilia A
;
Hemophilia B
;
Hemorrhage*
;
Osteoporosis
;
von Willebrand Diseases