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Results for “CHRISTMAS DISEASE”

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At least 181 records · Page 10Linked to original sources
PubMed1993

Female twins with severe Christmas disease (hemophilia B).

Hemophilia B is an X-linked bleeding disorder. We report on female twins, who were conspicious in prolonged bleeding after venipuncture as well as hematomas after intramuscular injections even in the first months of their life. Their father suffering from a severe hemophilia B deceased in 1992. Their mother, half-brother and grandmother from their father's side had no signs of bleeding disorders. Clotting analysis performed in both twins revealed a markedly prolonged partial thromboplastin time (> 100 s). The factor IX levels were below 2%. In order to detect mutations, a general screen using the polymerase chain reaction (PCR) followed by single strand conformation polymorphism (SSCP) analysis of the PCR products have been performed. PCR products have been cut into smaller fragments using restriction endonucleases (RE) for an in-depth SSCP screen. A general screen for gross abnormalities in the factor IX gene including deletions, insertions and rearrangements was performed by Southern blot analysis of RE-digests of genomic DNA using the factor IX cDNA as a hybridization probe. Furthermore, we screened for mutations in the CG dinucleotides comprising part of RE-recognition sequences (exon 1, 2, 3, 4, 5, and 8). By all methods applied herein, no mutations have been detected in these twins. On the basis of our results the hemophilia B of these twins might be explained by extreme non-random lyonization.

Child, Preschool↗
PubMed1991

Haemorrhagic problems in obstetrics and gynaecology in patients with congenital coagulopathies.

OBJECTIVE: To review the obstetric and gynaecological problems in women with congenital coagulopathies. DESIGN: Retrospective review. SETTING: Regional Adult Haemophilia Unit, Glasgow Royal Infirmary. SUBJECTS: All women in contact with the Unit over a period of 30 years, comprising eight with von Willebrand's disease, 18 obligate carriers of haemophilia A and five obligate carriers of Christmas disease. Each woman was interviewed and details of their obstetric and gynaecological histories were obtained and their case records were reviewed. MAIN OUTCOME MEASURES: Haemostatic changes associated with pregnancy and gynaecological problems. RESULTS: In 14 pregnancies in seven patients with von Willebrand's disease, there were four primary and four secondary post-partum haemorrhages and a large perineal haematoma complicating an episiotomy. These problems arose despite the endogenous rise in factor VIIIc seen with pregnancy. All women seen with von Willebrand's disease complained of menorrhagia and had been referred to gynaecologists. Treatment included danazol, tranexamic acid and the contraceptive pill. Diagnostic curettage resulted in severe haemorrhage in one woman and two women with pelvic pain and dyspareunia were found to have spontaneous broad ligament haematomas, one requiring surgery. In 43 pregnancies in obligate carriers of haemophilia A and Christmas disease there were five post-partum haemorrhages and a large perineal haematoma. CONCLUSION: In von Willebrand's disease it should be noted that adequate laboratory correction of factor VIIIc levels does not ensure clinical haemostasis; hence platelet function should also be measured. Patients with congenital coagulopathies pose particular problems for the obstetrician and gynaecologist and should be managed in close association with the local haemophilia centre.

Blood Coagulation Disorders↗
PubMed1978

Drug therapy reviews: clinical use of hemostatic agents.

Systemic hemostatic agents are reviewed. Among the agents discussed are vitamin K preparations (phytonadione, menadione, menadione sodium bisulfite, menadiol sodium diphosphate); and blood products (whole blood, plasma, cryoprecipitate, factor VIII concentrates, factor IX concentrates and fibrinogen concentrates). Normal and abnormal hemostasis and fibrinolysis are discussed, as is the general management of systemic hemostatic defects. Specific disorders covered are clotting factor deficiencies, hemophilia A, factor VIII inhibitors, von Willebrand disease, hemophilia B (Christmas disease), other congenital coagulation disorders, acquired deficiency of factors II, VII, IX and X, and defibrination syndrome.

Antibodies↗
PubMed1984

Congenital hemorrhagic disorders in Jordan.

The results of a three year prospective study of inherited bleeding syndromes in Jordan is presented. There were 112 patients from 64 families. Of these there were 42 patients with hemophilia A, 23 with Glanzmann's thrombasthenia, 22 with von Willebrand's disease, 11 with Christmas disease, 6 with hypofibrinogenemia, 3 with afibrinogenemia, 2 with factor XIII deficiency, 2 with storage pool disease and 1 with factor XI deficiency. The pattern of inherited bleeding syndromes in Jordan is different from that seen in Europe and U.S.A. in that Glanzmann's thrombasthenia is very common. High proportion of hemophiliacs were severe. Arthropathy was common. A significant number of bleeders had fatal hemorrhage. In a high proportion of patients, no family history of bleeding was found.

Adolescent↗
PubMed1975

Clinical observations and their relationship to laboratory findings in the haemophilias.

Continuous observations in shcool terms have been made on the frequency of spontaneous bleeding episodes in a group of adolescent boys suffereing from haemophilia (39 cases), Christmas disease (9 cases), and von Willebrand's disease (2 cases). The observations suggest that in haemophilia other factors, besides the deficient factor VIII, affect the bleeding frequency. In the two boys with von Willebrand's disease, the lower level of factor VIII was associated with the milder symptoms; whereas in boys with Christmas disease clinical severity and laboratory results seemed to be correlated.

Adolescent↗