Incidence Of Haemophilia Research Articles

Population-based surveillance of haemophilia and patient outcomes in Indiana using multiple data sources.

IntroductionEpidemiological surveillance of haemophilia through linkage of medical records within a US state has not been conducted in 20 years.AimThe Indiana Haemophilia Surveillance Project aims to identify all persons with haemophilia who resided in Indiana in 2011‐2013 and to determine the percentage of patients in Indiana cared for at a federally recognized haemophilia treatment centre (HTC).MethodsA retrospective review of medical charts was conducted to identify haemophilia cases during the surveillance years. Case‐finding methods involved a variety of medical care resources including hospitals, administrative claims data and haematology/oncology clinic reports.ResultsIn Indiana, 704 unique haemophilia cases were identified. Of those cases, 456 (64.8%) had factor VIII and 248 (35.2%) had factor IX deficiency. Among those with known severity levels (n = 685), 233 (34%) were severe, 185 (27%) were moderate, and 267 (39%) were mild. Overall, 81.7% of the haemophilia patients identified visited an HTC at least once during the three‐year study period, which was the requirement for being considered an HTC patient. Age‐adjusted prevalence for 2013 was 19.4 haemophilia cases per 100 000 males, 12.7 per 100 000 for factor VIII and 6.7 per 100 000 for factor IX. Incidence of haemophilia over the 10 years prior to the surveillance years was 1:3688 live male births in Indiana. During the surveillance years, 24 cases (3.4%) died.ConclusionWe observed higher incidence and prevalence of haemophilia in Indiana compared to previous national estimates, as well as higher HTC utilization among persons with haemophilia.

Co-existing mild Hemophilia A with Mild Type 1 Von Willebrand Disease: Case Report

Von Willebrand disease and haemophilia A are the two most common inherited bleeding disorders. The worldwide incidence of VWD is estimated between 1% and 4% of the population without apparent racial or ethnic predilection. In the United States, the incidence of haemophilia A is estimated to be 25 per 100 000 male births. Despite the relatively high frequency of those two bleeding disorders in the general population, the reports of their coexistence together or of combined coagulopathies in general are rare. We describe 1- year old male who was admitted to our hospital with a excessive bleeding after circumcision. Results: Laboratory evaluation revealed a prolonged activated partial thromboplastin time 46.2 sn (normal range 23.2-34.7) and low FVIII activity level of 5.5% of normal, von willebrand factor antigen and von willebrand factor ristocetin cofactor activity were also low at %50 and %44 of normal, respectively. Factor VIII C2 domain R2304H mutation was found. Conclusions: The propositus was now diagnosed with mild type 1 VWD in addition to mild severity haemophilia A. We believe that the co-existence of VWD and haemophilia A is underappreciated, under-diagnosed, and under-reported, given the fact that these are the two most commonly inherited coagulopathies.

Haemophilia B: impact on patients and economic burden of disease

Worldwide, haemophilia is the most common hereditary bleeding disorder. The incidence of haemophilia B, however, is considerably less than haemophilia A and consequently appears to have received less attention in the research literature. This article aims to summarise the available evidence documenting the patient and economic burden associated with haemophilia B and current methods of disease management. Both the immediate and long-term clinical consequences of haemophilia B can have significant implications for patients in terms of functional limitations and diminished health-related quality of life (HRQOL). Evidence demonstrates that primary prophylaxis is the optimal strategy for replacing missing clotting factor IX (FIX) and managing haemophilia B. Use of recombinant FIX (rFIX) over plasma-derived FIX (pd-FIX) is also generally preferred for safety reasons. Prophylaxis using currently available rFIX products, however, requires a demanding regimen of intravenous infusions 2-3 times a week which may have significant implications for adherence and ultimately the long-term efficacy of such regimens. Only limited assessments of the cost-effectiveness of prophylactic versus on-demand FIX treatment regimens have been conducted to date. Prophylaxis, however, is generally more costly as greater quantities of FIX are consumed. Any reduction in FIX replacement dosing frequency is expected to improve patient adherence and contribute to improved clinical outcomes, further supporting the cost-effectiveness of such interventions. Although a rare disease, as economic constraints for healthcare increase, generating further information regarding the key clinical, patient and economic outcomes associated with haemophilia B will be essential for supporting improvements in care for people with haemophilia B.

Carrier testing and prenatal diagnosis of haemophilia--utilisation and psychological consequences.

Attitudes towards prenatal diagnosis, and abortion vary widely between different countries, religions, cultures and over time. Carrier testing and prenatal diagnosis (PD) of haemophilia have become an integrated part of the comprehensive care for haemophilia in Sweden as well as in many other countries. Almost all carriers are interested in carrier testing if they are aware of the possibility. With the development of PD by chorionic villus sampling in the first trimester, the method became acceptable for many carriers, and it has in Sweden actually had an effect on the incidence of haemophilia in the 1990s. The use of PD is more common among women who perceive haemophilia as a very serious disease and who have a positive attitude towards legal abortion. The main reason for carriers not to use PD was that they do not find haemophilia to be a sufficiently serious disorder to justify an abortion. Women and their spouses are under a great deal of psychological pressure in association with the PD procedure, and the psychological consequences of having to terminate a pregnancy are long-lasting. At follow-up, about 6 years after PD and abortion, these women, however, do not have more signs of psychological distress than women without PD experience. Nevertheless, they must be offered qualified assistance both before and after PD as well as adequate follow-up after an abortion to help them cope with the emotional strain they are under.

Prevalence and detection of patients with bleeding disorders

AbstractsThis paper reports on the prevalence of specific congenital bleeding disorders in Australia and records those drugs used in Australia which may cause disorders and result in haemorrhage following surgery. The incidence of haemophilia in Australia is amongst the highest in the world. The paper also presents a simple approach for the detection of patients who may bleed excessively following dental surgery.