11/203. Drug-induced and traumatic nail problems in the haemophilias. Many persons with haemophilia suffer from hiv and receive highly active antiretroviral therapy. Three patients received indinavir and required surgery due to ingrown toenails. Two patients suffered from a traumatic subungual haematoma. The treatment protocol is described whereby the pressure exerted onto the germinal layer and the nail bed is relieved in order to alleviate pain and nail matrix damage. ( info) |
12/203. 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. ( info) |
13/203. Hemorrhagic diathesis in a carrier of hemophilia b. A carrier of hemophilia b was found to have an unusually low factor ix level of 13 per cent. Her history of previous bleeding and the hospital course following elective dental extractions were consistent with a mild hemorrhagic diathesis. The patient is a member of a rare kindred of hemophiliacs. The mean level of factor ix in 12 carriers in this kindred was 42 per cent, with a range of 13 to 100 per cent. This patient represents the sixth reported case in which a female carrier of factor ix deficiency was symptomatic. ( info) |
14/203. Survey of amniocentesis for fetal sex determination in hemophilia carriers. A study was designed to determine whether there is an increased risk of complications when amniocentesis for fetal sex determination is performed on hemophilia carriers. questionnaires were sent to 112 medical centers providing this service in the united states, and to 19 outside the united states. Responses were received from 76% of the centers in the united states. Data on 11,819 taps were obtained. Only 75 taps (0.64%) were performed for the indication of hemophilia. The frequency of fetal deaths in the general sample (1.84%) was not significantly different from that in the subsample of hemophilia carriers (1.33%). The results of this survey correspond very closely to data from a National Registry on amniocentesis for various indicaions in such variables as the number of taps needed for diagnosis, color of the fluid obtained, and number of dry taps. Carrier women who had bleeding problems during the monitored pregnancy are described. The problems might have been related to the amniocentesis in three women. It is calculated that only 2-4% of hemophilia carrier women who might have amniocentesis are utilizing the service. ( info) |
15/203. Pulmonary hemorrhage in a hemophiliac simulating a lung neoplasm. We report an elderly, male smoker with moderate hemophilia b who presented with hemoptysis. Chest imaging revealed a well-circumscribed, pulmonary, mass lesion. Repeated bronchoscopy failed to make a diagnosis, and the patient ultimately underwent open thoracotomy with resection of the mass. Pathologic examination revealed hemorrhagic changes in association with bullous lung disease. This is the first report of symptomatic pulmonary hemorrhage in a patient with hemophilia b. hemorrhage into a pre-existing bulla can simulate a primary lung neoplasm. ( info) |
| The authors report the case of a 49-year-old man, hematoma of the gallbladder associated with hemophilia b. The patient was diagnosed incidentally by abdominal computed tomography with a gallbladder tumor. Endoscopic retrograde cholangiopancreatography revealed negative gallbladder and angiography showed no obvious abnormality in the cystic artery. magnetic resonance imaging showed a mass of mixed intensity on T2-weighted image and a mass of mixed intensity on the lining of the gallbladder wall. hemorrhage in the gallbladder was thought to be most likely, however, the gallbladder tumor could not to be neglected. cholecystectomy was performed on the patient and the pathological diagnosis was of a hemorrhage in the gallbladder. hematoma of the gallbladder is a rare complication in patients with hemophilia b, however, it leads sometimes to a fatal course and magnetic resonance imaging is very useful to diagnose hemorrhage in the gallbladder. ( info) |
17/203. Haemophilia B in a female caused by skewed inactivation of the normal X-chromosome. hemophilia b (factor ix deficiency) is an X-linked recessive disorder with a prevalence of 1:30,000 male births, which rarely affects females. A missense mutation T38R (6488C>G) of the factor ix (FIX) gene was characterized in a young female with moderate-to-severe hemophilia b. She is heterozygous for this mutation, which she inherited from her carrier mother. Analysis of the methyl-sensitive HpaII sites in the first exon of the human androgen-receptor locus indicated a de novo skewed X-chromosomal inactivation. This indicates that the paternal X-chromosome carrying her normal FIX gene is the inactive one, which has led to the phenotypic expression of hemophilia b in this patient. ( info) |
18/203. Three episodes of delayed hemolytic transfusion reactions due to multiple red cell antibodies, anti-Di, anti-Jk and anti-E. There is no report in which three episodes of delayed hemolytic transfusion reaction (DHTR) occurred from multiple antibodies to red cells (RBCs) in the course of treatment of a patient. This paper describes episodes of anemia and hyperbilirubinemia in concert with the development of three alloantibodies in a multiple transfused patient. The patient was a 71-year-old male suffering from valvular heart disease and hemophilia b with a history of transfusions. Although he received compatible RBCs from 14 donors as judged by a crossmatch test using the albumin-antiglobulin method, three episodes of DHTR occurred after surgery. The first hemolytic episode on day 7 after surgery was due to anti-Di(a) because of clinical and laboratory evidence which included jaundice, sudden increases in total bilirubin (T-Bil) and lactate dehydrogenase (LD) levels, and a decrease (2.2 g/dl) in hemoglobin (Hb) level. The second hemolytic episode on day 16 resulted from newly producted anti-Jk(b). The patient experienced fever, fatigue, nausea and anorexia, and laboratory data showed a second increase in T-Bil, a second decrease (3 g/dl) in Hb, and moderate elevations of blood urea nitrogen (BUN) and creatinine (CRE) levels. The third hemolytic episode on day 39 was due to anti-E. The patient complained of fever and fatigue and had a third unexplained drop (1.5 g/dl) in Hb despite no bleeding. This is the first reported case in which three episodes of DHTR occurred from different red cell antibodies. ( info) |
19/203. venous thromboembolism after hip fracture surgery in a patient with haemophilia B and factor v Arg506Gln (factor v Leiden). We describe a patient with mild haemophilia B who developed symptomatic venous thromboembolism after hip arthroplasty for a traumatic fracture. A deep vein thrombosis developed in the operated leg while he was receiving a high-purity factor ix concentrate. Subsequently, he was determined to be a heterozygous carrier for the factor v Arg506Gln (Leiden) mutation. This case illustrates the importance of providing thromboprophylaxis for all patients with haemophilia receiving coagulation factor replacement and who undergo surgical procedures known to be associated with a high risk of venous thromboembolism. In patients with haemophilia and a family history of venous thromboembolism, preoperative screening for the presence of the factor v Arg506Gln mutation and other thrombophilias may be useful. ( info) |
20/203. Induction of immune tolerance and suppression of anaphylaxis in a child with haemophilia B by simple plasmapheresis and antigen exposure. anaphylaxis to factor ix (FIX) in patients with haemophilia B is a rare and life-threatening complication that has been reported to occur in association with the development of inhibitors to FIX. Management of these patients is difficult. This report presents an 18-month-old boy with a frame-shift mutation of the FIX gene and FIX coagulant level of <1% who developed anaphylactoid reactions to low and high purity plasma-derived FIX concentration infusions and an inhibitor measuring 1.0 BU mL(-1). The patient was managed with simple plasmapheresis, a short course of corticosteroids and high-dose antigen exposure, which successfully induced long-lasting immune tolerance to FIX concentrates. ( info) |