Rare diseases, as the name suggests, are difficult to find due to low incidence and prevalence. Though they are rare, they are fatal as well and pose a significant burden on societies and health authorities globally. One way of keeping an account of such cases is by registering them when they are diagnosed. But, isolating case findings and registering them are not of great help in the long term management of such diseases. Syndicated or national registries not only keep an account of such patients but also help in their follow up. A registry is defined in epidemiology as a data file with information efficiently recoverable, related with elements that are important for health in a defined population in such a way that the registered elements can be extrapolated to a base population. The blog highlights the need, roles and possibilities of registries in haemophilia care.

Need for a haemophilia registry

Haemophilia is a rare X-linked congenital bleeding disorder. Treatment has a large impact on haemophilia management and without treatment, haemophilia causes crippling pain, severe joint damage, disability, and death. The World Federation of Haemophilia estimated that about 75% of all persons with haemophilia worldwide do not receive appropriate or any treatment at all, or remain undiagnosed as the treatment is expensive. This data raises important concerns and suggests the evaluations of the quality of care between centres as well as health outcome measures. Both safety surveillance and assessment of sensitive outcome measures in large patient samples is crucial, and the only way to progress is via registries of these rare disorders and through national and international collaborations between many centres in different countries.

Role of registry in Haemophilia

A haemophilia registry is mostly a computer database or a collection of records of people identified with haemophilia or inherited bleeding disorders. It includes information on personal details such as age, sex, type of bleeding disorder, severity, natural history, type and amount of treatment received, and complications such as inhibitors, liver disease, joint disease, etc. Patient registries have a clear role in the monitoring and benchmarking of quality of care and health outcomes in many areas of medicine and are either based on geographic region or area of care, nationally or internationally. They also help in surveillance and safety. A national registry helps in the centralization of data for a whole country to avoid duplication. It is essential to track the identification and diagnosis of people with haemophilia and the use of the products (drugs), monitoring of their health, measurement of the effectiveness of healthcare programs as well as long-term planning for haemophilia organizations, and priority setting for health care. Basic data, such as the increases in the number of patients diagnosed or the life expectancy of people with haemophilia, is useful in evaluating the worth and success of various development programs to improve care within countries. It is also essential to lobby governments and advocate for improved care. A national registry may also allow the effective use of available resources, audit of clinical programmes, planning of research projects, and cross-evaluation of special sub-databases (for instance, on genetics and inhibitors). The information supplied by a national haemophilia registry may also help patients by increasing awareness and identifying shortcomings in the healthcare delivery system.  It also helps in assessing the variations in clinical practices along with their effectiveness and safety.

Where haemophilia registry can help:

The stakeholders of patient registries are clinicians and multidisciplinary haemophilia teams, national Haemophilia organizations, commissioners/payers/health insurers, regulatory health authorities, and patients. It is recommended that all countries implement national registries on Inherited bleeding disorders which will boost haemophilia care to a major extent.

Dr. Rohan Pratap