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At least 19 recordsLinked to original sources
PubMed1984

Hemophilia in Sweden. Studies on demography of hemophilia and surgery in hemophilia and von Willebrand's disease.

Demography: All known hemophiliacs in Sweden, 564 cases, were subjected to a demographic survey in 1980. The ratio of hemophilia A/B was 81/19. The severe cases constituted 30% and the mild 54%. Mean and median ages for mild and moderate hemophiliacs did not differ from those of Swedish males but were approximately 10 years lower in the severe cases. The prevalence was 7 per 100,000 population. The incidence remained constant at 1.7 (+/- 0.1) per 10,000 live-born males in the period 1957-1978. Mortality: In the period 1957-1980, there was a substantial increase in the median age at death among 118 deceased hemophiliacs. This increase was most pronounced in severe hemophilia, from 19 to 50.5 years. Intracranial hemorrhage accounted for one third of the deaths. Six deaths were attributed to hepatic dysfunction caused by hepatitis. Age related deaths (ischemic heart disease and malignancy) increased from 8 % to 32 %. Longevity: Median life expectancy of hemophiliacs in Sweden increased faster than the median life expectancy of the male population. In the beginning of the century, severe hemophiliacs faced a median life expectancy of about 11 years which had increased to 58 years by 1969-1980. Median life expectancy in mild and moderate hemophilia was 72 years, only three and a half years less than the corresponding age for Swedish males. Surgery in hemophilia and von Willebrand's disease: Three hundred and twelve operations (225 in hemophilia and 87 in von Willebrand's disease) were performed on 180 patients (121 hemophiliacs) in the period 1956-1983 at the General Hospital in Malmö. During the first years reconstructive orthopedic surgery dominated among young, severely affected, hemophiliacs but in recent years surgical diseases unrelated to the bleeding disorders increased. Ninety-seven operations were indicated by ailments caused by the bleeding disorders, mainly hemophilic arthropathy and pseudotumours. In another 72 operations the bleeding disorders were considered a contributing factor, mainly gastric surgery for ulcers, hysterectomy indicated by menometrorrhagia and subdural hematomas. Reconstructive orthopedic surgery was almost exclusively performed in hemophilia but gastric surgery was more common in von Willebrand's disease. The operations claimed three fatalities. It was considered essential to extend the substitution therapy to at least two weeks, especially in orthopedic surgery and in severe hemophilia. Furthermore, it was of the utmost importance to have access to laboratory facilities for repeated determinations of VIII:C/IX:C in hemophilia, Duke bleeding time in von Willebrand's disease, and to exclude the presence of inhibitors.

Adolescent↗
PubMed1985

[Diagnosis of hemophilia and Willebrand-Jürgens syndrome. 2. Results of studies in hemophilia patients and hemophilia carriers].

By genealogic and laboratory-diagnostic investigations in the county of Magdeburg 79 patients with haemophilia A and 23 patients with haemophilia B were established. Characteristic coagulation-analytic findings in patients without and with additional thrombocytic functional disturbances are shown. In female conductors of haemophilia A the reliability in the diagnostics could be increased with the help of the discriminance analysis by combination of the genealogic tree information with the coagulation-analytic findings.

Blood Coagulation Factors↗
PubMed1998

Occurrence of hemophilia in the United States. The Hemophilia Surveillance System Project Investigators.

An active surveillance system was used to identify all residents with hemophilia in six U.S. states (Colorado, Georgia, Louisiana, Massachusetts, New York, and Oklahoma). A hemophilia case was defined as a person with physician-diagnosed hemophilia A or B and/or a measured baseline factor VIII or IX activity (FA) of 30% or less. Case-finding methods included patient reports from physicians, clinical laboratories, hospitals, and hemophilia treatment centers. Once identified, trained data abstractors collected clinical and outcome data retrospectively from medical records. Among cases identified in 1993-1995, 2,743 were residents of the six states in 1994, of whom 2,156 (79%) had hemophilia A. Of those with available FA measurements, 1,140 (43%) had severe (FA < 1%), 684 (26%) had moderate (FA 1%-5%), and 848 (31%) had mild (FA 6%-30%) disease. The mean and median age was 25.4 and 23 years, respectively. The age-adjusted prevalence of hemophilia in all six states in 1994 was 13.4 cases/100,000 males (10.5 for hemophilia A and 2.9 for B). The prevalence by race/ethnicity was 13.2 cases/100,000 among white, 11.0 among African American, and 11.5 among Hispanic males. Application of age-specific prevalence rates from the six surveillance states to the U.S. population resulted in an estimated national population of 13,320 cases of hemophilia A and 3,640 cases of hemophilia B. For the 10-year period 1982-1991, the average incidence of hemophilia A and B in the hemophilia surveillance system (HSS) states was estimated to be 1 in 5,032 live male births.

Adult↗
PubMed1999

Secular trends in the prevalence of HIV infection among a population of males with hemophilia, 1988-1997: the Oklahoma Hemophilia Surveillance System.

Tracking the natural history of HIV/AIDS in the hemophilia community is useful for planning future health care needs and for adjusting estimates of the prevalence of hemophilia as the impact of HIV/AIDS wanes over time. The present study was designed to determine the annual prevalence of HIV infection from 1988 through 1997 in a population of males with hemophilia A or B. Data were obtained from the Oklahoma Hemophilia Surveillance System and were limited to individuals who were seen at the Oklahoma Hemophilia Treatment Center. In 1988, the prevalence rate of HIV infection was 34 percent. Rates have declined in each subsequent year through 1997. The highest rates of HIV infection were observed in persons with severe hemophilia and hemophilia A. The overall prevalence rates of HIV infection in this treatment center population are lower than those reported in other populations. No new cases of HIV infection were observed in persons with hemophilia born after 1985.

HIV Infections↗
PubMed1995

Hemophilia and von Willebrand's disease: 2. Management. Association of Hemophilia Clinic Directors of Canada.

OBJECTIVE: To present current strategies for the treatment of hemophilia and von Willebrand's disease. OPTIONS: Prophylactic and corrective therapy with hemostatic and adjunctive agents: DDAVP (1-desamino-8-D-arginine vasopressin [desmopressin acetate]), recombinant coagulation products (human Factor VIII and human Factor VIIa) or virally inactivated plasma-derived products (high- or ultra-high-purity human Factor VIII or human Factor VIII concentrate containing von Willebrand factor activity, porcine Factor VIII, high-purity human Factor IX, human prothrombin-complex concentrate, human activated prothrombin-complex concentrate), adjunctive antifibrinolytic agents, topical thrombin and fibrin sealant. The induction of immune tolerance in patients in whom inhibitors develop should also be considered. OUTCOMES: Morbidity and quality of life associated with bleeding and treatment. EVIDENCE: Relevant clinical studies and reports published from 1974 to 1994 were examined. A search was conducted of our reprint files, MEDLINE, citations in the articles reviewed and references provided by colleagues. In the MEDLINE search the following terms were used singly or in combination: "hemophilia," "von Willebrand's disease," "Factor VIII," "Factor IX," "von Willebrand factor," "diagnosis," "management," "home care," "comprehensive care," "inhibitor," "AIDS," "hepatitis," "life expectancy," "complications," "practice guidelines," "consensus statement" and "controlled trial." The in-depth review included only articles written in English from North America and Europe that were relevant to human disease and pertinent to a predetermined outline. The availability of treatment products in Canada was also considered. VALUES: Minimizing morbidity and maximizing functional status and quality of life were given a high value. BENEFITS, HARMS AND COSTS: Proper prophylactic or early treatment with appropriate hemostatic agents minimizes morbidity and functional disability and improves quality of life. Economic gains are realized through the reduction of mortality and morbidity and their associated costs. The patient has a better opportunity to contribute to society through gainful employment and the fulfillment of social roles. Potential harms include HIV infection, hepatitis B, hepatitis C and the development of inhibitor antibodies to clotting-factor concentrates. The risk of viral transmission has been minimized through the development of procedures for the viral inactivation of plasma-derived clotting-factor concentrates and through the use of recombinant coagulation-factor concentrates and other non-plasma-derived hemostatic agents. RECOMMENDATIONS: DDAVP is the drug of choice for patients with mild hemophilia or type 1 or 2 (except 2B) von Willebrand's disease whose response to DDAVP in previous testing has been found to be adequate. Therapeutic blood components of choice include recombinant products and virally inactivated plasma-derived products. In Canada the recommended products are recombinant Factor VIII for hemophilia A, high-purity plasma-derived Factor IX for hemophilia B and plasma-derived Factor VIII concentrates containing adequate von Willebrand factor (e.g., Haemate P) for von Willebrand's disease. Dosages vary according to specific indications. Adjunctive antifibrinolytic agents, topical thrombin and fibrin sealant are useful for the treatment of oral or dental bleeds and localized bleeds in accessible sites. In patients with inhibitor antibodies, high-dose human or porcine Factor VIII is usually effective when the inhibitor titre is less than 5 Bethesda units/mL. In nonresponsive patients, or in those whose inhibitor titre is higher, "bypassing" agents (e.g., activated prothrombin-complex concentrate and recombinant Factor VIIa) are useful. Long-term management may include immune-tolerance induction. VALIDATION: These recommendations were reviewed and approved by the Association of Hemophilia Clinic Directors of Canada (AHCDC) and the Medical and Scientific Advisory Committee of the Canadian Hemophilia Society. No similar consensus statements or practice guidelines are available for comparison. SPONSORS: These recommendations were developed at the request of the Canadian Blood Agency, which funds the provision of all coagulation-factor concentrates for people with congenital bleeding disorders, and were developed and endorsed by the AHCDC and the Medical and Scientific Advisory Committee of the Canadian Hemophilia Society.

Antifibrinolytic Agents↗
PubMed1985

Genetic screening for hemophilia A (classic hemophilia) with a polymorphic DNA probe.

We have developed a new method of screening for hemophilia A in families at risk for the disease. A DNA probe (St14) that detects a very polymorphic region on the human X chromosome has been shown to be closely linked to hemophilia A. We observed no recombination between the St14 locus and hemophilia A in 12 families studied. The odds in favor of linkage are 4.4 X 10(9) to 1 (lod score, 9.65). The 95 per cent confidence interval for the probability of a recombination between St14 and hemophilia A is 0 to 6.5 per cent. This DNA probe, which is informative in more than 90 per cent of families at risk of hemophilia A, can be used in conjunction with classic biologic assays to identify carriers with an accuracy of 96 per cent or more. If a small risk of misclassification due to crossover between the test and the disease loci is accepted, this DNA marker should allow first-trimester prenatal diagnosis of hemophilia A. Segregation analysis with St14 may thus represent a major improvement in genetic counseling for hemophilia A.

Alleles↗
PubMed1995

Hemophilia and von Willebrand's disease: 1. Diagnosis, comprehensive care and assessment. Association of Hemophilia Clinic Directors of Canada.

OBJECTIVE: To present current strategies for the assessment and comprehensive care of patients with hemophilia and von Willebrand's disease. OPTIONS: Hospital care, home care, single-provider care and multidisciplinary care. OUTCOMES: Morbidity and quality of life associated with bleeding and treatment. EVIDENCE: Relevant clinical studies and reports published from 1974 to 1994 were examined. A search was conducted of own reprint files, MEDLINE, citations in the articles reviewed and references provided by colleagues. In the MEDLINE search the following terms were used singly or in combination: "hemophilia," "von Willebrand's disease," "Factor VIII," "Factor IX," "von Willebrand factor," "diagnosis," "management," "home care," "comprehensive care," "inhibitor," "AIDS," "hepatitis," "life expectancy," "complications," "practice guidelines," "consensus statement" and "controlled trial." The in-depth review included only articles written in English from North America and Europe that were relevant to human disease and to a predetermined outline. The availability of treatment products in Canada was also considered. VALUES: Minimizing morbidity and maximizing functional status and quality of life were given a high value. BENEFITS, HARMS AND COSTS: The optimal use of treatment procedures and home care offers patients the advantages of minimized disability, improved survival and financial benefit. It is also cost effective. Potential harm, including the risk of hepatitis B, hepatitis C and HIV infection, has now been minimized through viral inactivation of plasma-derived coagulation-factor concentrates and through the use of recombinant clotting factor concentrates and other non-plasma-derived hemostatic agents. RECOMMENDATIONS: Patients with hemophilia and severe von Willebrand's disease should be followed in comprehensive care centres that offer expertise in the diagnosis, assessment and management of bleeding and complications and that can meet the educational and counselling needs of patients, family members and health care providers. Eligible patients should be enrolled in a home self-infusion program. Patients with hemophilia and von Willebrand's disease should wear or carry Medic Alert identification. They should be vaccinated against hepatitis B and attend for routine follow-up examinations. Laboratory testing should be carried out as required, and dental and surgical care should be undertaken in consultation with a hematologist. VALIDATION: These recommendations were reviewed and approved by the Association of Hemophilia Clinic Directors of Canada (AHCDC) and the Medical and Scientific Advisory Committee of the Canadian Hemophilia Society. No similar consensus statements or practice guidelines are available for comparison. SPONSORS: These recommendations were developed at the request of the Canadian Blood Agency, which funds the provision of all coagulation-factor concentrates for people with congenital bleeding disorders, and were developed and endorsed by the AHCDC and the Medical and Scientific Advisory Committee of the Canadian Hemophilia Society.

Activities of Daily Living↗
PubMed1989

Geographic variability of hemophilia-associated AIDS in the United States: effect of population characteristics. Hemophilia-Associated AIDS Study Group.

National AIDS surveillance suggests that approximately 3.5% of all hemophilic patients in the United States have developed AIDS as of February 1988; however, the cumulative incidence of AIDS among seropositive patients at individual hemophilia treatment centers (HTCs) has been reported to be as high as 12%. The purpose of this study was to examine the reported excess risk of AIDS at selected HTCs. Between July 13 and November 6, 1987, we reviewed medical charts from the 598 hemophilia A and hemophilia B patients receiving comprehensive care as of 1980 at six U.S. hemophilia treatment centers (three identified as low AIDS risk and three identified as high AIDS risk using national hemophilia-associated AIDS surveillance data). The risk of AIDS among all patients was 8% and among seropositive patients was 18%. At the individual HTCs, the risk ranged from 0% to 14% among all patients and 0% to 25% among seropositive patients. Overall incidence rates were higher than those derived from national surveillance data because national estimates include all hemophilic patients (regardless of severity) whereas this study included only patients receiving comprehensive care (who are more likely to be severely affected by their coagulation disorder and receive concentrated clotting factors). The higher incidence of AIDS in the high-risk centers was attributable to the older age of the patients in these HTCs, a factor previously associated with an increased risk of AIDS in seropositive patients. These findings do not support geographic variability in the incidence of AIDS and emphasize the importance of patient characteristics when comparing the incidence of hemophilia-associated AIDS between populations.

AIDS Serodiagnosis↗
PubMed2002

What factors influence the age at diagnosis of hemophilia? Results of the French hemophilia cohort.

OBJECTIVE: The diagnosis of hemophilia was reported as delayed in historic studies. We therefore investigated this issue to provide current epidemiologic data in a large series of patients. STUDY DESIGN: The French cohort provided the opportunity to investigate the age at diagnosis and the circumstances of diagnosis in 599 individuals with hemophilia born between 1980 and 1994. The type and the severity of hemophilia, the family history, and the period of birth were analyzed as potential modifying factors. RESULTS: The median age at diagnosis was 7.7 months, with significant differences among subgroups: 5.8 months in severe hemophilia, 9.0 months in moderate forms, 28.6 months in mild forms, 0.4 months in the case of hemophilic brothers, and 10.1 months in de novo hemophilia, which accounted for 55.3% of cases. In severe forms we observed a trend for earlier diagnosis throughout 3 consecutive periods from 1980 to 1994. Of bleeding episode, testing due to family history, or routine testing, bleeding was the main circumstance of diagnosis (59.9%). CONCLUSIONS: Diagnosis was made earlier than in historic series, but it remained somewhat delayed. Early diagnosis will require efforts in the fields of genetic counseling and specific diagnosis of early bleeding, even without family history, because of the high incidence of de novo hemophilia.

Age Factors↗
PubMed1985

HTLV-I antibody status in hemophilia patients treated with factor concentrates prepared from U.S. plasma sources and in hemophilia patients with AIDS.

Serum samples from 85 Austrian hemophilia patients treated with lyophilized factor concentrates prepared from U.S. plasma sources, 24 hemophilia patients from Georgia on a home therapy program with factor concentrates, and 10 U.S. hemophilia patients with acquired immunodeficiency syndrome (AIDS) were analyzed by two different methods for the presence of antibodies to the major internal antigen of human T-cell leukemia virus I (HTLV-I) p24. All but one, a Georgia sample, were negative. The absence of antibody to HTLV-I p24 in the serum of European hemophilia patients, of U.S. hemophilia patients with no symptoms of AIDS, and of U.S. hemophilia patients with AIDS is interpreted as an indication of the lack of ready transmissibility of HTLV-I in lyophilized factor concentrates.

Acquired Immunodeficiency Syndrome↗
PubMed1985

Prenatal diagnosis of classic hemophilia (hemophilia A) by immunoradiometric assays.

During the period from 1978 to 1983, 92 pregnancies have been evaluated by fetoscopy for the prenatal diagnosis of hemophilia A. Satisfactory fetal plasma samples were obtained in 80 instances and the diagnosis--or exclusion--of hemophilia was made by immunoradiometric assay of the factor VIII coagulant protein (VIII:CAg). The accuracy of the diagnosis established by fetoscopy has been verified after delivery or termination, and there have been no misdiagnoses resulting from laboratory error. Additional evidence for the accuracy of the analysis was the observation that the frequency of hemophilia in pregnancies of obligate carriers of the hemophilia gene, and of women whose plasma assays were indicative of the carrier state, was 29 of 59 fetuses at risk. In one case of cross-reacting material-positive hemophilia, samples obtained at fetoscopy and from the newborn infant had normal VIII:CAg levels but the infant had decreased factor VIII procoagulant activity. There were five fetal deaths resulting from fetoscopy in 55 pregnancies not intentionally terminated. Although only a small percentage of pregnant hemophilia carriers in the United States have elected to undergo fetoscopy for prenatal diagnosis, this procedure has allowed a number of pregnancies to go to term with delivery of normal males in families that were not willing to accept the risk of a hemophilic child. In eight instances, fetoscopic evaluation was sought for two successive pregnancies.

Antigens↗
PubMed2001

Defining the impact of hemophilia: the Academic Achievement in Children with Hemophilia Study.

OBJECTIVES: We characterized a population-based cohort of school-aged children with severe hemophilia with respect to type of treatment, on-demand versus prophylaxis, and frequency of bleeding episodes in the year before enrollment. We also investigated the association between hemophilia-related morbidity, measured by number of bleeding episodes in the year before enrollment, and academic performance after adjustment for other factors known to have an effect on achievement. Finally, we explored the mechanisms for the association between bleeding episodes and academic achievement. STUDY DESIGN: This study was a multicenter investigation of boys 6 to 12 years old with severe factor VIII deficiency (clotting factor level <2%) receiving care in US hemophilia treatment centers. Children with a history of inhibitor, severe developmental disorder, significant psychiatric disorder, or insufficient fluency in English were excluded from the study. On-demand treatment was defined as administration of clotting factor on the occurrence of a bleeding episode. Prophylactic therapy was defined as a course of regular infusions for >2 months with a goal of preventing bleeding episodes. Academic achievement was measured by the Wechsler Individual Achievement Test. Quality of life was measured by the Child Health Questionnaire. Of particular interest was the Physical Summary (PhS) measure of the Child Health Questionnaire. The type of information captured by the PhS includes limitations in physical activity, limitations in the kind or amount of schoolwork or social activities the child engaged in, and presence of pain or discomfort. RESULTS: One hundred thirty-one children were enrolled, a median center recruitment rate of 77%. The mean age of the participants was 9.6 years, and approximately half of the participants had completed less than the fourth grade at the time of enrollment. Sixty-two percent of the children were on prophylaxis at enrollment, and 9% had previously been on prophylaxis but were currently on on-demand therapy. Two groups were defined: ever treated with prophylaxis and never treated with prophylaxis. For those ever treated, treatment duration ranged from 2.7 months to 7.7 years, with one half of the children treated with prophylaxis for >40% of their lifetimes; 29% had always been on on-demand therapy. Children in both treatment groups were similar with respect to age, clotting factor level, parents' education, and IQ. The median number of bleeding episodes experienced in the year before enrollment for the cohort as a whole was 12. The median number of bleeding episodes in children on prophylaxis at enrollment was significantly lower than in children on on-demand therapy (6 vs 25.5). The mean achievement scores were within the average range of academic performance: reading, 100.4; mathematics, 101.6; language, 108.1; writing, 95.4; and total achievement, 102.5. When children were categorized as above or below the study group median by number of bleeding episodes, those who had a low number of bleeding episodes (< or =11) had better total achievement (104.4 vs 100.6) and mathematics (103.6 vs 99.6) than children in the higher bleeding episode category (> or =12) after adjusting for child's IQ and parents' education. Treatment with prophylaxis per se was not associated with better test scores, but children who had been treated on a regimen of long-term prophylaxis (>40% of lifetime) and reported < or =11 bleeding episodes in the year before enrollment had significantly higher scores in total achievement (104.9 vs 100.6), mathematics (105.2 vs 99.6), and reading (104.0 vs 98.6) than all other children reporting > or =12 bleeding episodes in the same time period. Increased school absenteeism and hemophilia-related limitations in physical functioning among children with greater frequency of bleeding episodes were proposed as the mechanisms for lower scores. The number of bleeding episodes was positively correlated with school absenteeism (Spearman correlation = 0.23), and children with more school absences had lower scores in mathematics, reading, and total achievement, even after adjusting for the child's IQ and parents' education. Children with fewer bleeding episodes also had better PhS scores than children in the high bleeding episode category (48.4 vs 41.3). The mean PhS for children in the low bleeding episode group (48.4) was similar to that of the general US population (50), but the mean PhS for children in the higher bleeding episode group was almost a full standard deviation lower than the mean for the general US population. PhS scores were positively related to reading and total achievement scores after adjusting for IQ and parents' education. Of interest and concern was a group of children who were reportedly being treated with prophylaxis during the year before enrollment (N = 18) but whose bleeding events were not optimally suppressed. These children were 3 times as likely (33.3% vs 11.1%) to be receiving < or =2 infusions per week as children on prophylaxis who reported < or =11 bleeding episodes during the same period. A review of the sites of bleeding reported for the 18 children revealed that 12 (66.6%) experienced > or =25% of their bleeding episodes in the same joint. CONCLUSIONS: Each child should have the opportunity to achieve his or her potential. Control of a chronic disorder must include this important goal as well as the more commonly identified medical outcomes. This study has identified an important association between the number of bleeding episodes experienced and academic achievement in a cohort of school-aged children with severe hemophilia. The data support the assertion that therapeutic care programs in this population must not be evaluated only in terms of financial cost to achieve adequate musculoskeletal outcomes. Also significant are the individual and societal benefits of increased academic accomplishments if adequate suppression of hemorrhagic events can be attained. The number of bleeding episodes experienced, regardless of treatment regimen, should be followed to optimize the child's academic outcome.

Absenteeism↗
PubMed1982

Incidence, significance, and subtypes of hemophilia BM in a large population of hemophilia B patients.

Eleven patients with hemophilia BM were found out of a population of 66 patients with hemophilia B. Factor IX activity in the hemophilia BM varied between less than 1% and 1.6% of normal but factor IX antigen was normal or only slightly reduced in each instance. Thrombotest clotting time was variably prolonged and was not corrected by the addition of normal plasma. Thrombotest mixing experiments and dilution curve studies confirmed the presence of the inhibitor in every patient. There are at least two forms of hemophilia BM, a severe one and a mild one. In the first form, Thrombotest is severely prolonged (90-120 s). In the other, the prolongation is mild or moderate (60-80 s). A positive correlation exists between the antigen-activity difference (delta antigen-activity) and the prolongation of Thrombotest both in the propositi and in obligatory carriers. The criteria for the diagnosis of hemophilia BM are the following: prolonged PTT, prolonged Thrombotest, lack of correction of Thrombotest by the addition of normal plasma while PTT is fully corrected. The lack of correction of Thrombotest in the presence of a full correction of PTT, is the unique clotting feature.

Adolescent↗
PubMed1992

Prevalence of inhibitors in a population of 3435 hemophilia patients in France. French Hemophilia Study Group.

A cooperative study between the 37 centers of the French Hemophilia Study Group was undertaken to establish the prevalence of inhibitor patients in the French hemophilia population. The prevalence reported in the literature varies widely from 3.6% to 17.5%. Some of the studies are dealing with a small number of patients and inhibitor patients are reported either to the total number of hemophiliacs or to the severely affected ones. The French study provided information concerning 3,435 hemophiliacs and showed a prevalence of 6.2% for the overall population. Prevalence of inhibitors was found to be 7% in the population of hemophilia A patients and 12.8% in the population of severely affected ones. The prevalence of inhibitors in the population of hemophilia patients was 2% and 4% in the population of severely affected hemophilia B patients. The cooperative study also showed that 47.5% of inhibitors are detected before 10 years of age and that 82% of inhibitor patients are high responders. Analysis of inhibitor detection in patients under the age often showed that there was a peak in the population of 2 years old children. Although not comparable to the present study the high incidence of inhibitors with ultrapurified and recombinant FVIII reported in previously untransfused patient may be borne in mind.

Child↗
PubMedDate not supplied

Hemophilia in dogs, with special reference to hemophilia A among German shepherd dogs in Denmark. I: Pathophysiology, laboratory tests and genetics.

A review is given of the history and distribution of hemophilia in dogs. The current knowledge of Factor VIII relative to hemophilia A and von Willebrand's Disease is presented. The tests required for distinguishing between hemophilia A, hemophilia B, von Willebrand's Disease, and various disorders caused by other factor defects in the coagulation cascade are described. X-linked, recessive inheritance of hemophilia A is illustrated in genealogical diagrams. The precautions required in connection with blood sampling for diagnostic tests are emphasized.

Animals↗
PubMed2002

Quantifying practice effects in longitudinal research with the WISC-R and WAIS-R: a study of children and adolescents with hemophilia and male siblings without hemophilia.

OBJECTIVE: To quantify practice effects associated with annual administrations of WISC-R and WAIS-R in children and adolescents with and without hemophilia. METHODS: Participants were young men (age: 7-19; 80 with hemophilia, 30 siblings) enrolled in the Hemophilia Growth and Development Study. Participants with hemophilia completed age-appropriate Wechsler scales at baseline and at four annual follow-ups; the siblings, at baseline and one 2-year follow-up. Regression analyses were used to quantify average changes in scores, adjusting for variables related to test performance. RESULTS: Consecutive annual evaluations were free of significant practice effects for 4 years with the Verbal Scale and for 2 years with the Performance Scale. VIQ decreased, and PIQ increased over time. Baseline VIQ was related to changes in VIQ; baseline PIQ and number of test-specific retests were related to changes in PIQ. CONCLUSIONS: The findings support use of Wechsler scales for annual evaluations to monitor cognitive development in children and adolescents.

Adolescent↗
PubMedDate not supplied

Declining immune function in children and adolescents with hemophilia and HIV infection: effects on neuropsychological performance. Hemophilia Growth and Development Study.

OBJECTIVE: To determine whether declines in immune functioning are associated with changes in neuropsychological performance in children and adolescents with hemophilia who are infected with the human immunodeficiency virus (HIV). METHODS: Participants were 333 males with hemophilia, ages 6-19 years at entry. A baseline and four annual neuropsychological evaluations were given. A longitudinal growth curves analysis of data was performed to detect changes associated with declining immune function. The cohort was stratified into four groups: (1) HIV- (n = 126); (2) HIV+, average of first two and last two CD4 counts > or = 200, (n = 106; High CD4 group); (3) HIV+, average first two counts > or = 200, average last two counts < 200 (n = 41; CD4 Drop group); and (4) HIV+, average first two and last two counts < 200 (n = 60; Low CD4 group). RESULTS: There were significant differences among the four groups over time in nonverbal intelligence, perceptual/performance skills, nonverbal memory, academic achievement, and language. The Low CD4 group consistently showed the greatest decrement in performance. On measures showing a practice effect for repeated measurements, the Low CD4 group participants' scores remained stable over time, suggesting opposing effects of practice and HIV-related declines. Lowered academic performance relative to IQ was found in all groups. CONCLUSIONS: Declines in neuropsychological functioning are directly related to declines in immune functioning in HIV+ children, adolescents, and young adults with hemophilia. Hemophilia itself may be a risk factor for academic underachievement.

Adolescent↗