Encourage the use of genetic counselling

Encourage the use of genetic counselling

Patients with haemophilia and other inherited bleeding disorders continue to suffer due to a lack of awareness among the general public as well as professionals who are inadequately prepared to manage them. The government must help put an end to the suffering by devoting an adequate budget to their medical bills, which includes the provision of life-saving drugs like anti-haemophilia injections.

Haemophilia is a hereditary illness marked by excessive bleeding, which can occur spontaneously or as a result of an injury to any area of the body or surgery. Clotting factors are proteins found in blood that can assist stop bleeding. People with haemophilia have clotting factor VIII (haemophilia A) or factor IX deficiency or diminished activity (hemophilia B).

The amount of factor present in the blood determines the severity of haemophilia. There are three levels of severity: severe, moderate, and mild. Mild haemophiliacs rarely bleed unless they are injured or undergo invasive procedures. Patients with severe haemophilia have the highest frequency and severity of bleeding. As a result, the lower the level of the factor, the more probable bleeding will occur, which might result in major health issues.

Excessive bleeding from 'everyday' injuries is an example of spontaneous bleeding. In childhood, easy bruising caused by bleeding into the joints and muscles. Bleeding from the nose, gums, intestines, kidneys, and head. Even routine procedures, such as tooth extraction and circumcision, can result in significant bleeding during or after surgery.

Haemophilia A is more frequent than Haemophilia B, accounting for 80-85% of all haemophilia patients. The treatment for these two disorders is similar clinically, but it differs in that it involves replacing lost clotting factor concentrate as quickly as feasible to manage or prevent bleeding. According to the World Federation of Hemophilia (WFH), afflicted haemophilia patients account for 21 out of every 100,000 male births globally.

There are 5234 haemophilia patients in Sindh, with 766 haemophiliacs (out of 900 total bleeding disorders) registered at the Hemophilia Welfare Society in Karachi (HWSK). Due to a lack of understanding and the expensive expense of basic diagnostic tests such as complete blood counts, coagulation tests, and factor levels, 4332 remains undiagnosed. The majority of haemophiliacs live in the underdeveloped countries, where the condition is poorly understood and managed. This is a major cause of morbidity and mortality, as well as psychological, social, and financial strain on patients and their families.

Treatment with clotting factor concentrates (Anti-Hemophiliac injections) to prevent and treat bleeding is the standard of care for this illness. Unfortunately, because haemophilia treatment is not included in provincial and federal health budgets, it is not available in Pakistan, and haemophiliacs have been treated with alternate treatments such as blood plasma therapy from public-private institutions and blood banks for decades. Because of the increased danger of transfusion-transmitted illnesses like hepatitis B, hepatitis C, and HIV as a result of unsafe blood sales, an increasing number of haemophilia patients are positive for these infections.

Hemophilia patients at HWSK were recently tested for these viruses in partnership with the Sindh Blood Transfusion Authority (SBTA) and the Sindh health department's communicable illness programme. Unfortunately, 50% of the patients tested positive for Hepatitis C infection, 5% for Hepatitis B infection, and 1% for HIV infection.

As a result, haemophiliacs are entitled to thorough diagnosis and treatment. If these are not made available soon, the affected and unnamed are at risk of death from continual (internal/external) joint bleeding, cerebral bleeds, and gastro-intestinal bleeds, all of which will result in total physical disability. Unfortunately, under the current situation, all patients over the age of 12 are fast developing physical deformities, and as a result, they are unable to obtain an education. This weight causes further psychosocial disorders in individuals as well as in those close to them.

Prophylactic therapy, which tries to prevent future bleeds, especially joint bleeds, has been the standard of care in recent years. Prophylaxis is recommended by the World Federation of Hemophilia (WFH) to prevent bleeds and joint deterioration while maintaining normal musculoskeletal function. Furthermore, it is recommended that all patients receive it before to engaging in any activities that are associated with an elevated risk of trauma.

Prophylaxis should be considered cutting-edge medicine. Despite the requirements, prophylaxis is not universally practised, particularly in Pakistan. Prophylaxis is limited by medical, psychosocial, economic, and affordability difficulties, and the majority of patients are treated by on-demand delivery of factor concentrates to stop bleeding. To avoid bleeding, 25 children under the age of ten were given prophylactic treatment with long-acting factor concentrate at the HWSK. In addition, 36 people with severe haemophilia In partnership with the WFH humanitarian aid programme, patients are treated prophylactically with new contemporary medicine Emicizumab therapy. These preventative medicines have significantly improved these individuals' quality of life.

A public-private cooperation between provincial governments, haemophilia groups, and the World Federation of Hemophilia is urgently needed to reduce haemophilia death and disability rates. This will make the next generation of haemophiliacs a useful member of society, rather than a burden, as earlier generations were. Furthermore, to avoid the spread of these bleeding disorders in the population, public awareness, education, and genetic counselling are required.

The author, a consultant haematologist, is the director of the Karachi-based Hemophilia Welfare Society (HWSK).