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At least 199 records · Page 11Linked to original sources
PubMed1982

Molecular cloning of the gene for human anti-haemophilic factor IX.

A functional deficiency of factor IX, one of the coagulation factors involved in blood clotting, leads to the bleeding disorder known as Christmas disease, or haemophilia B. Both this disease and haemophilia A (factor VIII (C) deficiency) are X chromosome-linked and together occur at a frequency of approximately 1 in 10,000 males. The molecular basis for the functional alteration of factor IX in Christmas disease is not clearly understood. As a first step towards the elucidation of the molecular events involved, we have attempted molecular cloning of the factor IX gene. We used a bovine factor IX cDNA clone, isolated using synthetic oligonucleotides as probes, to screen a cloned human gene library. Here we report the isolation and partial characterization of a lambda recombinant phage containing the human factor IX gene.

Bacteriophage lambda↗
PubMed1998

Orthotopic liver transplantation for hepatitis C infection: the best Christmas present?

We report the case of a 60-year-old man with mild Christmas disease, Factor IX 10% of normal, who developed chronic hepatitis C infection after receiving coagulation factor concentrates. Subsequently he developed encephalopathy and liver failure and was referred for liver transplantation. Following transplantation, Factor IX levels rapidly normalised and have remained so, representing a phenotypic cure of his Christmas disease.

Blood Coagulation Factors↗
PubMed1977

Inherited bleeding syndromes in Iraq.

This paper presents data on the occurence and pattern of inherited bleeding syndromes (IBS) in Iraq, a hitherto unexplored problem. During the first fourteen months of a prospective on-going study at a major university center, 116 patients from 62 families were diagnosed as having IBS. All patients were referred because of moderate to severe bleeding diatheses. They included 62 haemophiliacs 32 patients with von Willebrand's disease (VWD), 9 with Christmas disease (CD), 6 with afibrinogenemia, 1 with prothrombin deficiency, and 6 were thought to have platelet dysfunction. 32 other bleeders (16 hemophiliacs, 14 VWD, and 2 CD) were also recognized among the pedigrees studied but were not available for full investigations. The clinical and laboratory features of the patients observed in Iraq do not seem to be significantly different from those of patients in Western Europe or North America. Although the absolute incidence and relative distribution of these disorders in the entire population cannot yet be determined, the rate of occurence per segment population is likely to be high, most likely due to the high rate of consanguinity and large number of births per family, phenomena still prevalent in this country.

Adolescent↗
PubMed1961

The rate of blood loss from skin punctures during the Ivy bleeding time test.

The rate of blood loss from skin punctures during the performance of the Ivy bleeding time test has been measured by a simple technique in normal individuals, in patients without defects of the haemostatic or coagulation system, and in patients with known haemorrhagic disorders.A wide range was found in normal individuals, but repeated tests on a single individual showed a smaller variation. Nearly half of the tests on patients with von Willebrand's disease, thrombocytopenia, ;capillary type' of bleeding, or haemorrhagic renal failure gave abnormally high rates of blood loss. Haemophilic, Christmas disease, and Dinedevan-treated patients gave low volumes and rates of blood loss.A group of patients has been encountered in whom the bleeding time was normal but the rate of blood loss was increased. The majority of these had haemorrhagic symptoms and other evidence of a defective haemostatic or coagulation system. It is suggested that a consideration of the rate of blood loss in those patients with a normal bleeding time gives additional help in interpreting the Ivy test. A high rate may indicate the need for further investigation of the haemostatic and coagulation system.

Bleeding Time↗
PubMed1989

Factor IX molecular defects in diagnosing hemophilia B: a review.

The past several years have seen an explosive growth in the application of recombinant DNA methods to study the molecular pathology of various inherited disorders. As a consequence, molecular defects responsible for the disease have been identified at the sequence level. In this review, I briefly describe the recent progress in the uses of factor IX gene probes in clinical diagnosis of hemophilia B (Christmas disease) carriers, as well as their use for analyzing the structural gene abnormalities that are responsible for the disease.

Chromosome Deletion↗
PubMed1985

Genetic disorders on the island of St Helena.

The island of St Helena lies in the South Atlantic ocean and is isolated by distance from any land mass and by lack of a harbour or airfield. In these circumstances there could be an unusual pattern of inherited disease, and for this reason we have attempted to document the presence and frequency of genetic conditions in the population, which numbers approximately 5 500. Genetic disorders identified included autosomal dominant genu valgum, hereditary angioneurotic oedema, Christmas disease and pseudo-achondroplasia. The presence of the autosomal recessive form of retinitis pigmentosa provides a possible explanation for the occurrence of that condition in the islanders of Tristan da Cunha, since they have ancestral links with the St Helena community. The recognition of these genetic disorders in this isolated population has practical implications in terms of clinical management and the provision of medical services.

Achondroplasia↗
PubMed1986

Haemophilic arthritis.

A detailed clinical and radiological examination of the joints and laboratory studies were carried out on 139 haemophiliacs attending a single centre. The group included more patients with mild and moderate haemophilia (factor levels 6 to 60 per cent) than in previous studies. Haemarthrosis, the most common bleeding manifestation, had affected more than two-thirds of patients including many with mild or moderate disease. Restriction and contracture of the knees and elbows were the most common clinical features and, with the ankles, these joints were most frequently affected both clinically and radiologically. Using a combination of clinical and radiological features, 42 per cent of the patients could be classed as having 'definite' and a further 14 per cent 'possible' haemophilic arthritis. Although haemarthroses were equally prevalent in patients with classical haemophilia and Christmas disease, arthritis was more frequently present in the former. Haemarthrosis and joint disease were exceptional in von Willebrand's disease. The prevalence of arthritis generally related to disease severity as measured by factor level but, in contrast to earlier studies, definite arthritis was seen in some patients with factor levels up to 20 per cent of normal although the number of affected joints was less in these patients with milder disease. Laboratory test abnormalities including circulating immune complexes and hypocomplementaemia were noted in some patients but the abnormalities correlated poorly with clinical features. The present results suggest a recent slight reduction in the prevalence or severity of haemophilic arthritis, possibly attributable to recent improvements in factor replacement treatment. Longer-term studies are required to show whether arthritis is indeed lessening or whether the onset is merely being delayed.

Adolescent↗
PubMedDate not supplied

[Hemophilic patients. Treatment protocol in the dental office].

Hemophilia is an inherited hemorrhagic disease which is due to the insufficiency of Factor VIII, or Factor IX, or Factor XI. Hemophilia patients are regarded as special patients with increased dental problems. The present paper consists of two parts. In the first part the types of hemophilia, ways of transmission, severity forms, and clinical characteristics are described. In the second part a protocol concerning the dental treatment of hemophilia patients is presented. There are four basic types of hemophilia: hemophilia A or classical hemophilia or Factor VIII deficiency, hemophilia B or Christmas disease, hemophilia C and von Willebrand's disease. Hemophilia is transmitted either as a sex-linked recessive or as an autosomal dominant trait, depending on the type of the disease. The severity of hemophilia depends on the amount of the coagulation factor present. According to this amount, there are four scales of severity. The clinical characteristics of the disease also depend on the amount of the factor present and vary, from occasional bleedings to serious and even life-threatening bleeding episodes. In the second part of the paper the special psychological and physiological problems of the hemophiliacs are discussed. In addition, there is reference to the hematologic coverage these patients need, as well as to the protection measures for the dental personnel against hepatitis and AIDS. The dental treatment plan at the office is presented in detail, including a discussion of the advantages and disadvantages of the treatment of hemophilia patients in the operating room under general anesthesia.

Dental Care for Persons with Disabilities↗
PubMed2006

Blood safety and the choice of anti-hemophilic factor concentrate.

Hemophilia is a congenital disorder due to the deficiency of the activity of factor VIII (classical hemophilia A) or IX (Christmas disease or hemophilia B). Bleeding is common and may result in long-term complications or even death. Bleeding may be treated or prevented by infusion of factor concentrates however these drugs are not without risk. Clinicians often feel ill prepared to provide accurate and impartial information regarding these drugs. This review will provide the reader with an historical yet up to date perspective on blood safety as it relates to the choice of concentrates to treat hemophilia.

Blood Donors↗
PubMed1984

Isolation and characterization of human factor IX cDNA: identification of Taq I polymorphism and regional assignment.

Hemophilia B or Christmas disease is an X-linked condition caused by absent or reduced levels of functional coagulation factor IX. Based upon the peptide sequence of bovine factor IX, we synthesized a 17-base pair oligonucleotide probe to screen a human liver cDNA library. A recombinant clone was identified with a 917-nucleotide insert whose sequence corresponds to 70% of the coding region of human factor IX. This factor IX cDNA was used to probe restriction endonuclease digested human DNA to identify a Taq I polymorphism associated with the genomic factor IX gene as well as to verify that there is a single copy of this gene per haploid genome. The factor IX cDNA was also used to map the locus for factor IX to a region from Xq26 to Xqter. The cloning of human factor IX cDNA and identification of a Taq I polymorphism and its regional localization will provide a means to study the molecular genetics of hemophilia B and permit linkage analysis with nearby loci.

Amino Acid Sequence↗
PubMed1984

The use of prothrombin activating snake venoms to measure human prethrombin 2: absence of prethrombin 2 in serum.

The activation of the prothrombin intermediate, Prethrombin 2, has been studied in order to establish test systems that would enable identification of Prethrombin 2 in serum and Factor IX concentrates. While activation of Prethrombin 2 by Taipan Snake Venom (TSV) was slow and incomplete, inclusion of approximately molar amounts of prothrombin fragments F1 or F1.2 markedly enhanced the amount of thrombin formed by TSV. This effect could also be obtained by the inclusion of serum. Neither normal serum nor Factor V deficient serum contain any identifiable Prethrombin 2. On the other hand substantial amounts of Prethrombin 2 are present in Factor IX concentrates used for the treatment of Christmas Disease (Hemophilia B).

Chromatography, DEAE-Cellulose↗
PubMed1975

A comparison of thermography, radioisotope scanning and clinical assessment of the knee joints in haemophilia.

Thermography, radioactive scanning and clinical assessment of the knee joints of a series of patients with haemophilia or Christmas disease have been performed. A positive correlation was found between the abnormalities of the thermograms, radioactive scans and the clinical signs in acute haemarthrosis, but not in chronic haemophilic joint disease nor in patients without clinical joint disease. No correlation between the thermograms, radioactive scans and the number of previous joint bleeds was shown. Thermography and radionuclide scanning provide rapid means of quantifying changes within the haemophilic joint and may be useful in assessing treatment of haemophilic haemarthrosis.

Adolescent↗
PubMed1996

[Coronary artery bypass with extracorporeal circulation in a patient with hemophilia B].

A 64-year-old patient with factor IX deficiency (Christmas disease) underwent quadruple coronary bypass grafting for angina pectoris. Excessive bleeding was prevented by infusion of factor IX concentrates from one day before surgery until the 19th postoperative day. The surgical procedure and the cardiopulmonary bypass were carried out in the same manner as in patients without any haemorrhagic disorder. No haemorrhagic complication occurred, neither during nor after the operation.

Blood Coagulation Tests↗
PubMedDate not supplied

Gene deletions in patients with haemophilia B and anti-factor IX antibodies.

Christmas disease, or haemophilia B, is an inherited X-linked haemorrhagic disease which at present occurs in 798 known cases in the United Kingdom, corresponding to a frequency of about 1 in 30,000 males. Patients are deficient in the intrinsic clotting factor IX and are treated by replacement of this protein prepared from pooled plasma obtained from normal individuals. Occasionally treatment is complicated by the appearance of specific anti-factor IX antibodies. It seemed to us that this might be due to the absence of 'self' factor IX causing the immune system to regard the infused normal factor IX as foreign. The absence of all or part of the factor IX gene was an obvious possible reason for this, which we have now tested using our previously isolated gene probe. We have found four patients with gross gene defects.

Autoantibodies↗
PubMedDate not supplied

Expression of active human clotting factor IX from recombinant DNA clones in mammalian cells.

Haemophilia B, or Christmas disease, is an inherited X-chromosome-linked bleeding disorder caused by a defect in clotting factor IX and occurs in about 1 in 30,000 males in the United Kingdom. Injection of factor IX concentrate obtained from blood donors allows most patients to be successfully managed. However, because of impurities in the factor IX concentrate presently in use, this treatment involves some risk of infection by blood-borne viruses such as non-A, non-B hepatitis and the virus causing acquired immune deficiency syndrome (AIDS). Because of the recent concern about the increasing incidence of AIDS amongst haemophiliacs, a factor IX preparation derived from a source other than blood is desirable. Here, we report that after introduction of human factor IX DNA clones into a rat hepatoma cell line using recombinant DNA methods, we were able to isolate small amounts of biologically active human factor IX.

Animals↗
PubMedDate not supplied

Expression of active human factor IX in transfected cells.

Factor IX is the precursor of a serine protease that functions in the intrinsic blood clotting pathway. Deficiencies in this plasma glycoprotein result in haemophilia B (or Christmas disease) and occur in about 1 in 30,000 males. Patients are currently treated with fresh frozen plasma or prothrombin complex concentrates prepared from pooled plasma from normal individuals. There are several problems with this method of treatment, including the probable exposure of the patients to contaminants such as the viral agents responsible for hepatitis and AIDS (acquired immune deficiency syndrome). As a first step towards an alternative source of pure human factor IX, we report here on the use of recombinant DNA techniques to produce biologically active factor IX in cultured mammalian cells. Stable cell lines were produced by cotransfecting a baby hamster kidney (BHK) cell line with a plasmid containing a gene for factor IX and a plasmid containing a selectable marker. Protein secreted by these cell lines reduces the clotting time of plasma from factor IX-deficient patients. We present additional evidence that this protein is authentic human factor IX.

Animals↗
PubMedDate not supplied

Haemophilia B caused by a point mutation in a donor splice junction of the human factor IX gene.

Haemophilia B (Christmas disease) is an inherited, recessive, sex-linked, haemorrhagic condition caused by a defect in the intrinsic clotting factor IX. This disease occurs in males at a frequency of approximately 1 in 30,000. Patients differ in the severity of their clinical symptoms, and variation in the clotting activity and in the concentration of factor IX antigen in their plasma has been demonstrated. There is probably heterogeneity in the molecular defects of the factor IX gene causing the disease. Here we study a severely affected, antigen-negative patient, and show that the only significant sequence difference from the normal factor IX gene is a point mutation changing the obligatory GT to a TT within the donor splice junction of exon f. We infer that this change is the cause of the disease in this individual. In addition, we have used oligodeoxynucleotide probes specific for this mutation to demonstrate the feasibility of carrier detection and prenatal diagnosis for relatives of the patient.

Base Sequence↗