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

Centre de Traitement des Hémophiles, Service de Pédiatrie et d'Hématologie Pédiatrique, Hôpital d'enfants La Timone, Assistance Publique Hôpitaux de Marseille, Inserm EMI 0214, Paris, France.
Journal of Pediatrics (Impact Factor: 3.74). 11/2002; 141(4):548-52. DOI: 10.1067/mpd.2002.128115
Source: PubMed

ABSTRACT 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.
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.
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%).
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.

  • Source
    [Show abstract] [Hide abstract]
    ABSTRACT: Joint destruction in early adulthood brings the patients to the orthopaedic clinics. If a haemophilic patient becomes disabled, it shows a number of factors such as timely diagnosis, availability of appropriate treatment depending on the country, access and affordability to treatments and equally importantly the responsibility of the patient in managing self care by remaining compliant by prescribed treatment regimen. We assessed the functional level by functional independence score in haemophilia (FISH). Overall, 104 patients with haemophilia A and 29 with haemophilia B were evaluated. We assessed the function of the patients by FISH. We divided the sum scores into weak (FISH score 8-16), moderate (17-24), and good (25-32). For evaluating the level of functional deficit in a 2 × 2 table, we categorized the weak and moderate levels into Disordered Group and the good level into Not-Disordered Group. The average age was 26.9 ± 14.24. Each 1 year increase in age can increase 1.07 fold the possibility of being placed in Disordered Function Group. Severe haemophilia can increase 7.34 fold, presence of inhibitor can increase 9.75 fold and home self-care increases 3.89 fold the possibility of being placed in Disordered Function Group. To decrease the burden of the cost on patient, family and the government, education plays the most important role. We suggest that we send a trained team of physician and nurses to the deprived villages and cities instead of waiting for the patient to refer to our Care Center.
    Haemophilia 10/2013; DOI:10.1111/hae.12273 · 2.47 Impact Factor
  • [Show abstract] [Hide abstract]
    ABSTRACT: Many studies on epidemiology and mortality in haemophiliacs have been published in Western countries. However, few have been conducted in Asian countries. The purpose of our study was to investigate the nationwide epidemiology and mortality of haemophiliacs in Taiwan. Population-based data from the National Health Insurance Research Database between 1997 and 2009 were analysed using SAS version 9.3. The annual prevalence of haemophilia A (HA) and haemophilia B (HB) increased steadily to 7.30 and 1.34 cases per 100000 males, respectively, in 2009. The annual crude incidence of HA and HB averaged 8.73 and 1.73 per 100000 male births respectively. During the study period, the proportion of paediatric haemophiliacs decreased from 41.5% to 28.2% and the proportion of geriatric haemophiliacs increased from 2.5% to 5.7%. Among 493 newly diagnosed cases, the peak diagnostic ages were before 3 and between ages 10 and 40. Of the 76 cases of mortality, most patients died between the ages of 18 and 60. However, an increase in the age of mortality was noted after 2005 (P = 0.033). The overall standardized crude death rate of haemophiliacs was 10.2 per 1000 people, and the standard mortality ratio was 1.98. The annual prevalence of human immunodeficiency virus infection in haemophiliacs grossly declined from 1998 to 2009, with an average of 32.2 per 1000 haemophiliacs. This was a rare population-based study on the epidemiology and mortality of haemophilia in a Chinese population and Asian countries. The 13-year trends showed advances in haemophilia care in Taiwan.
    Haemophilia 01/2014; DOI:10.1111/hae.12373 · 2.47 Impact Factor
  • [Show abstract] [Hide abstract]
    ABSTRACT: The haemostasis of healthy newborn differs from those of normal adult but remains well balanced without bleeding or thrombosis. However, this equilibrium is unstable, and the neonate is exposed to acquired or inherited haemostasis disorders that necessitate to be early diagnosed in order to be appropriately treated. Several studies provided reference ranges for haemostatic components in the foetus, the newborn and throughout childhood. The particularities of neonatal haemostasis are therefore better defined and contribute to further understand the pathophysiology and characteristics of hemorrhagic and thrombotic disorders that occur in newborns. Some examples of the impact of age on haemostasis are: the risk of neonatal alloimmune thrombocytopenia is high in the first newborn of a woman at risk since the involved antigens are fully expressed by foetal platelets; the newborn is at risk for vitamin K deficiency with bleeding due to poor transport of vitamin K across the placenta and low levels of coagulation factors II, VII, IX, X; the diagnosis of some inherited coagulation deficiencies can be difficult in the newborn due to physiologically low levels of coagulation factors; thrombotic events are rare in the healthy neonate, despite physiologically very low levels of several coagulation inhibitors; the pharmacokinetic and effects of antithrombotic agents are influenced by the specificities of haemostasis in neonates. This review will discuss about the foetal development of haemostasis until birth, and some implications regarding the pathophysiology, the diagnosis and the treatment of bleeding disorders in the human neonate.
    Archives de Pédiatrie 09/2010; 17. DOI:10.1016/S0929-693X(10)70907-6 · 0.41 Impact Factor