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 ; Factor XI ; Factor XI Deficiency ; Hemophilia A ; Humans ; Jews ; Plasma

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 ; Child ; Epistaxis ; Ethnic Groups ; Factor XI Deficiency* ; Factor XI* ; Hemophilia A ; Humans ; Jews

<b>OBJECTIVEb>To investigate potential mutations and clinical features of 9 unrelated patients with inherited coagulation factor VII (FVII) deficiency.

<b>METHODSb>Clinical diagnosis was validated by assaying of coagulation parameters including prothrombin time, activated partial thromboplastin time, FVII activity and specific antigens. All exons, exon-intron boundaries, and 5' and 3' untranslated regions of F7 genes were amplified with PCR. Potential mutations were detected by direct sequencing of purified PCR products. Suspected mutations were confirmed by sequencing of the opposite strand.

<b>RESULTSb>All probands have featured prolonged prothrombin time, with FVII activity ranging between 2.0% to 6.0%. The titers of FVII antigen were significantly reduced in 7 probands. Eight mutations, including 6 missense mutations, 1 deletion and 1 insertion, were identified, among which 3 (Gln100Leu, Ser269Pro and g.11520_11521insT) were not described previously. Six mutations have located in the protease domain. All mutations were inherited, and consanguineous marriages were reported in 5 families. Mutations g.27_28delCT, Cys329Gly, Arg304Trp and His348Gln have been identified in unrelated families. There was a lack of correlation between the mutations and their clinical features. Two individuals with homozygous His348Gln mutations and 1 individual with homozygous Arg304Trp mutation were only mildly affected or asymptomatic. Two patients, who have respectively carried homozygous and heterozygous deletions of g.27_28delCT, were moderately affected and asymptomatic. In 4 patients carrying double heterozygous mutations, 1 (Ser269Pro and Cys329Gly) was asymptomatic, 2 (Arg304Trp and Cys329Gly, Arg277Cys and g.11520_11521insT, respectively) had a mild bleeding tendency, whilst 1 (Gln100Leu and His348Gln) has a moderate bleeding diathesis.

<b>CONCLUSIONb>There seem to be hotspots of F7 gene mutations in ethnic Han Chinese populations. And there is a lack of correlation between particular types of mutations and clinical phenotypes.

Adolescent ; Adult ; Aged ; Base Sequence ; Blood Coagulation Disorders, Inherited ; genetics ; Child ; Factor VII ; genetics ; Factor VII Deficiency ; genetics ; Female ; Heterozygote ; Homozygote ; Humans ; Male ; Middle Aged ; Molecular Sequence Data ; Mutation ; Young Adult

Although the majority of abnormal bleeding during the neonatal period results from acquired coagulation disorders, inherited coagulation disorders can also manifest at this time. Hemophilia is the most common of inherited coagulation disorder. Although 40-70% of cases with hemophilia are diagnosed in the neonatal period, few cases have been reported in premature infants. We report a case of a premature infant born at 31 weeks of gestation, diagnosed with hemophilia A by blood coagulation test, coagulation factor assay and study of the F8 gene. The baby was treated with recombinant factor VIII (Recombinate(R), USA) because of repeated seizures and intramuscular hematoma.
Blood Coagulation Disorders, Inherited ; Blood Coagulation Factors ; Blood Coagulation Tests ; Factor VIII ; Hematoma ; Hemophilia A ; Hemorrhage ; Humans ; Infant ; Infant, Newborn ; Infant, Premature ; Pregnancy ; Seizures

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 ; Diagnosis ; Factor XI ; Factor XI Deficiency ; Female ; Hemophilia A ; Hemorrhage ; Hip ; Humans ; Knee Joint ; Male ; Plasma ; Thromboplastin

Hemophilia A is a hereditary coagulation disorder. Most cases are diagnosed at birth or at least during childhood. A spontaneous spinal epidural hematoma was developed in a 74-year-old male patient who hadn't had a family or past medical history of bleeding disorders. On magnetic resonance imaging, epidural hematoma at L1-2 was accompanied by spinal stenosis at L4-5 and spondylolytic spondylolisthesis at L5. Hematoma evacuation and surgery for distal lumbar lesions were performed at once. After transient improvement, complete paraplegia was developed due to redevelopment of large epidural hematomas at L1-2 and L4-S1 which blocked epidural canal completely. Emergency evacuation was performed and we got to know that he had a hemophilia A. Factor VIII was 28% of normal value. Mild type hemophilia A could have not been diagnosed until adulthood. Factor VIII should have been replaced before the surgical decompression.
Aged ; Blood Coagulation Disorders, Inherited ; Decompression, Surgical ; Emergencies ; Factor VIII ; Hematoma ; Hematoma, Epidural, Spinal* ; Hemophilia A* ; Hemorrhage ; Humans ; Magnetic Resonance Imaging ; Male ; Paraplegia ; Parturition ; Reference Values ; Spinal Stenosis ; Spondylolisthesis

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

<b>OBJECTIVEb>To explore gene defect of hereditary coagulation factor XIII deficiency.

<b>METHODSb>PCR and gene sequencing or ARMS-PCR were used to detect the FXIIIA gene of peripheral white blood cell (PBC) from two Chinese hereditary coagulation factor XIII deficiency family members and 60 normal subjects respectively. The level of FXIIIA gene mRNA was tested by RT-PCR.

<b>RESULTSb>(1) Nucleotide sequence analysis of the two probands' and their family members' DNA revealed that all of the three patients had homozygous missense mutation in FXIII A subunit gene. Proband 1 had a C to G transition at nucleotide (nt) 1 241 in exon 10 and proband 2 and his sister a C to T transition at nt 232 in exon 3 of FXIII A gene, which resulted in the substitution of Ser413 with Trp and Arg 77 with Cys, respectively. Family study showed that the two mutations were inherited from the parents who were correspondingly heterozygotes at nt 1 241 or nt 232. (2) The two mutations were not found in the normal subjects. (3) The FXIIIA gene mRNA level in the two probands was a little decreasing.

<b>CONCLUSIONb>It is the two novel mutations that results in FXIIIA deficiency. The two mutations of FXIIIA gene may affect its function or alter protein folding. The defective FXIII which is unstable and degraded rapidly in cytoplasm may be the main cause of FXIII deficiency.

Blood Coagulation Disorders, Inherited ; genetics ; Child ; Exons ; genetics ; Factor XIII ; genetics ; Factor XIII Deficiency ; genetics ; Female ; Heterozygote ; Humans ; Pedigree ; Point Mutation ; Polymerase Chain Reaction ; methods

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 ; Blood Platelets ; Blood Transfusion ; Erythrocyte Transfusion ; Erythrocytes ; Factor XIII Deficiency ; Fibrinogen ; Hemophilia A ; Hemorrhage ; Humans ; Oxygen ; Partial Thromboplastin Time ; Plasma ; Platelet Transfusion ; Prothrombin Time ; Rationalization ; Thrombocytopenia ; von Willebrand Diseases

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 ; Factor VII Deficiency ; Factor VIIa* ; Factor VIII ; Gastrointestinal Hemorrhage* ; Hemophilia A ; Hemorrhage ; Humans