1/9. diagnosis of two related carriers of severe haemophilia B with no family history.Haemophilia B is an X-linked disease affecting 1 in 30 000 males. Carrier diagnosis is usually carried out only in female relatives of haemophilic males, and the likelihood of discovering a carrier without a haemophilic male is very low. In this report we present the cases of two related women without a family history of haemophilia who were diagnosed as haemophilia B carriers. Following a minor haemorrhage in the proband, she and her mother were thought to be haemophilia B carriers because of a low factor ix level (16 and 23 IU dL-1, respectively; normal values >50 IU dL-1). The non-sense mutation C31118T, which is associated with severe haemophilia B, was detected in both women. This allowed us to diagnose them as being definite carriers of severe haemophilia B and give appropriate genetic counselling.- - - - - - - - - - ranking = 1keywords = haemorrhage (Clic here for more details about this article) |
2/9. Haemorrhage in upper cervical cord: an unusual manifestation in moderate haemophilia patients who ride motorbikes.A young asymptomatic patient, with moderate haemophilia due to factor ix deficiency, developed symptoms of upper cord compression caused by a haemorrhage 12 hours after riding a motorcycle on a poorly maintained road. This led to quadriparesis with respiratory paralysis. In spite of neurosurgical intervention and intensive management with respirator therapy, the patient died 13 days after the incident from pneumonia and multi-organ failure. This is a very rare presentation of moderate haemophilia with serious consequences and has not to our knowledge, previously been reported in the English literature.- - - - - - - - - - ranking = 1keywords = haemorrhage (Clic here for more details about this article) |
3/9. Successful induction of immune tolerance in a patient with haemophilia B with inhibitor.We describe successful induction of immune tolerance (IT) in a 10-month-old boy with severe haemophilia B. urticaria developed soon after starting prophylactic treatment and was associated with an inhibitor at 7 Bethesda units mL(-1). Initially, we tried low dose factor ix therapy to induce IT with only a transient effect. The patient experienced an intracranial haemorrhage. A simple bolus dose of FIX eradicated the inhibitor. Thereafter he has been free from inhibitor and nephrotic syndrome for more than 5 years, although he receives FIX three times a week.- - - - - - - - - - ranking = 4.6514294564241keywords = intracranial haemorrhage, haemorrhage (Clic here for more details about this article) |
4/9. Intracranial haemorrhage as initial presentation of severe haemophilia B: case report and review of Mayo Clinic Comprehensive Hemophilia Center experience.A neonate who had intracranial haemorrhage (ICH) at birth received a diagnosis of severe haemophilia B at 6 months of age. ICH had been the initial presentation of his bleeding disorder. His family history was negative for haemophilia. review of our institutional experience as well as the literature indicates that intracranial bleeding as the initial presentation of haemophilia is rare.- - - - - - - - - - ranking = 8.6514294564241keywords = intracranial haemorrhage, haemorrhage (Clic here for more details about this article) |
5/9. Treatment of intracranial and extracranial haemorrhages in a neonate with severe haemophilia B with recombinant factor ix infusion.Intracranial (ICH) and extracranial (ECH) haemorrhages are potentially life-threatening events that may occur comorbidly in neonates with haemophilia. There is little data on the use of recombinant factor ix (rFIX; BeneFIX in the neonate. Children <15 years of age are known to require higher doses of recombinant factor ix (FIX) than older persons, which raises specific concerns in the neonate due to the increased risk of thrombosis in this age group (Thromb Haemost 2002; 87: 431). This report describes a case in which a high rate of continuous infusion of recombinant FIX was used to treat a newborn with significant intracranial and subgaleal haemorrhages. A high rate of infusion maintained at 30-35 U kg(-1) h(-1) was necessary to maintain adequate FIX levels. Despite the high rate of continuous infusion, no adverse events were noted. Our patient had a rare genetic mutation causing severe haemophilia B. A neonate with severe haemophilia B was treated successfully with recombinant FIX through continuous infusion. A high rate of infusion was required and no complications were noted.- - - - - - - - - - ranking = 6keywords = haemorrhage (Clic here for more details about this article) |
6/9. Neurological complications of haemophilia.Peripheral nerve lesions are well recognised complications of the haemophilias but impairment of autonomic function has not previously been reported. Two patients of the severe older haemophiliac population in the area were found to have impotence in association with signs of peripheral nerve damage. The basis proposed for this is autonomic nerve injury associated with intramuscular haemorrhage.- - - - - - - - - - ranking = 1keywords = haemorrhage (Clic here for more details about this article) |
7/9. Hereditary deficiency of all vitamin k-dependent procoagulants and anticoagulants.Hereditary combined deficiency of vitamin k-dependent factors is a rare entity. We report a 7-year-old girl of Arab origin with hereditary deficiency of the procoagulants factors II, VII, IX and X and the natural anticoagulants proteins C and S. The patient is the tenth offspring of a consanguinous marriage and presented at 6 weeks with spontaneous intracerebral haemorrhage. Symptoms improved following plasma infusion. A sibling died at 5 d from uncontrollable umbilical bleeding. blood coagulation work-up at 6 years showed: factor II:C (activity) 12 U/dl, factor II:Ag (antigen) 40 U/dl; factor vii:C 12 U/dl; factor IX:C 36 U/dl, factor ix:Ag 57 U/dl; factor x:C 17 U/dl, factor x:Ag 54 U/dl; protein c activity 43 U/dl; protein c:Ag 45 U/dl; protein s:Ag 34 U/dl; levels of factors V:C and VIII:C were normal. Assays of coagulation factors in the parents and five of the siblings were within the normal range. Following acute infection and dilantin therapy procoagulant activity levels were reduced further and were partially increased after vitamin k infusion. Crossed immunoelectrophoresis of prothrombin in the presence of calcium lactate revealed a population of des-carboxyprothrombin. serum vitamin k epoxide levels were undetectable. The data suggest that the defect in our patient stems from abnormal carboxylation of the vitamin k-dependent proteins and that the mode of inheritance is autosomal recessive.- - - - - - - - - - ranking = 1keywords = haemorrhage (Clic here for more details about this article) |
8/9. Haemorrhage and factor ix deficiency in pituitary insufficiency.Acquired isolated factor ix deficiency is rare. A case presenting with haemorrhage after dental extraction is described. The factor ix deficiency was associated with pituitary insufficiency and was completely corrected following the administration of thyroxine. This contrasts with a previously reported case in which both thyroxine and cortisone were required for complete correction of the factor ix deficiency. The underlying mechanism and the consequences are briefly discussed.- - - - - - - - - - ranking = 1keywords = haemorrhage (Clic here for more details about this article) |
9/9. disseminated intravascular coagulation in a patient with haemophilia B during factor ix replacement therapy.We report a case of haemophilia B, who developed disseminated intravascular coagulation (DIC) with massive bleeding following an administration of factor ix complex concentrates. A 22-year-old male with severe haemophilia B had a bone fracture of the fibula and haemorrhage in the ankle joint because of a traffic accident. factor ix complex concentrates were given to keep the plasma factor ix level more than 80% for surgery. 60 h after the infusion he showed epistaxis, haematuria and swelling of the injured ankle with evidence of DIC. A small dose of monoclonal antibody (mAb)-purified factor ix concentrates with heparin and gabexate relieved the haemorrhage. A high dose of the mAb-purified product attained more than 90% levels of plasma factor ix without coagulopathy. This observation emphasizes that currently available factor ix concentrates have thrombogenicity to induce DIC. Highly purified factor ix concentrates are needed for the high-dose replacement in haemophilia B.- - - - - - - - - - ranking = 2keywords = haemorrhage (Clic here for more details about this article) |