Hemophilia a deadly disease

Hemophilia is an inherited genetic disorder in which clotting factors are deficient in the blood. As a result, when a person with hemophilia is injured, their blood cannot clot in the same way as a healthy person's would. To prevent excessive bleeding, these patients often require transfusions of clotting factors.

Hemophilia has often been referred to as the "royal disease" because it affected several royal families in Europe during the 19th and 20th centuries. Queen Victoria of England, who reigned from 1837 to 1901, is believed to have been a carrier of hemophilia B (factor IX). She passed the gene on to three of her nine children, and from there, the disease was transmitted through multiple generations across various royal families, including those of England, Germany, Russia, and Spain.

It is estimated that 1 in every 4,000 to 5,000 male children is born with hemophilia A, while 1 in every 10,000 to 20,000 male children is born with hemophilia B.

In this context, World Hemophilia Day is observed every year on April 17. This day was chosen to honor the birthday of Frank Schnabel, the founder of the World Federation of Hemophilia (WFH). The primary goal of World Hemophilia Day is to raise awareness about hemophilia and other bleeding disorders, as well as to improve treatment access and facilities for those affected. By doing so, it aims to enhance the quality of life for people living with these diseases and make their lives safer.

Hemophilia and other blood disorders should be provided with treatment facilities that meet international standards so that affected individuals can lead fulfilling and healthy lives.

Experts point out that a significant concern is the large number of people who remain undiagnosed, receive inadequate treatment, or have no access to treatment at all. In Pakistan, the situation is especially dire. Due to the lack of official registration and a national database, the exact number of children affected by hemophilia remains unclear. However, it is estimated that 15,000 to 20,000 children in Pakistan are currently living with the disease.

Hemophilia is a rare genetic condition in which the blood does not clot properly due to a deficiency or absence of certain clotting proteins (clotting factors). As a result, a person with hemophilia may experience prolonged or excessive bleeding, although minor cuts or scrapes are usually not a major issue. The real concern arises when internal bleeding occurs, which can be life-threatening and may cause damage to tissues and organs.

The main treatment for hemophilia involves the timely transfusion of clotting factors, also known as fresh frozen plasma (FFP) or clotting factor concentrates, to replace the missing proteins.

Because of the risk of uncontrolled bleeding, individuals with hemophilia are advised against engaging in heavy physical activities or strenuous exercise. In severe cases of the disease, spontaneous bleeding may occur without any injury, putting the individual's life at risk.

Blood consists of red and white blood cells, platelets, and plasma. Plasma contains the clotting factors essential for stopping bleeding after an injury. When a healthy person is injured, the body forms a clot, a protective membrane that seals the wound and prevents further blood loss. The clotting factors in the plasma carry out this process.

However, in people with hemophilia, if the gene responsible for producing the clotting factors is mutated or absent, the production of these proteins is disrupted. As a result, the clotting process becomes ineffective, leading to prolonged or uncontrolled bleeding.

The symptoms of hemophilia can vary depending on the level of clotting factors in the blood. In general, individuals with more severe forms of hemophilia have lower levels of clotting factors and are at greater risk for internal bleeding and other complications.

The symptoms of hemophilia

The symptoms of hemophilia vary depending on the level of clotting factors in the blood.

Common symptoms may include prolonged bleeding after any surgery or tooth extraction, frequent nosebleeds, blood in the urine, bleeding gums, unexplained bruises (blue spots) on the body, and pain or swelling in the joints.

Is hemophilia curable?

Unfortunately, there is currently no permanent cure for hemophilia. This means that patients cannot completely get rid of the disease, nor can it be entirely prevented from being passed on to a child through the treatment of the parents.

However, hemophilia patients worldwide are typically treated by injecting clotting factor VIII or IX every 48 hours, depending on the type of hemophilia. These are the clotting factors that are naturally missing in the patient's blood.

Because these injections are extremely expensive and often unavailable in Pakistan, patients are commonly treated with fresh frozen plasma (FFP) or cryoprecipitate. While FFP can be effective, there are concerns regarding the safety of the blood products used. If the plasma is not properly screened, patients may be at risk of contracting serious infections such as hepatitis B, hepatitis C, and HIV.

Apart from hemophilia, another hereditary bleeding disorder, Von Willebrand Disease, is also relatively common in Pakistan. Like hemophilia, this disease also affects the blood clotting process. Unfortunately, due to a lack of proper diagnostic testing facilities, patients with Von Willebrand Disease are often misdiagnosed and treated as hemophiliacs.

According to health experts, this condition, like many chronic illnesses, can also lead to psychological effects. Patients may experience depression or obsessive-compulsive disorder (OCD), where they feel compelled to repeat certain actions. Additionally, feelings of inferiority may develop, which can lead to an increased dependence on medications.

Experts emphasize the need to establish hematology centers in smaller cities, towns, and rural areas. Furthermore, special care should be provided to individuals with bleeding disorders. They should be protected from injury, and immediate medical attention should be sought if bleeding does not stop.