Haemophilia: An Underestimated Prevalence Haemophilia is a rare genetic disorder that affects the body’s ability to clot blood. It is caused by a deficiency in certain clotting factors in the blood, which can lead to excessive bleeding after injuries or surgeries. Despite being relatively rare, haemophilia is a severe condition that can be life-threatening if not managed properly. In this article, we will discuss the prevalence of haemophilia, its types, symptoms, diagnosis, treatment, and management. Prevalence of Haemophilia Haemophilia is estimated to affect around 1 in every 10,000 people worldwide. However, some studies suggest that the prevalence of the disorder may be underestimated, especially in low-income countries where access to diagnosis and treatments is limited. According to the World Federation of Hemophilia (WFH), more than 400,000 people worldwide are affected by haemophilia, with about 75% of them not receiving adequate treatment. Types of Haemophilia Haemophilia is classified into two types: Haemophilia A and Haemophilia B. Haemophilia A is caused by a deficiency in clotting factor VIII (FVIII), while Haemophilia B is caused by a deficiency in clotting factor IX (FIX). The severity of the condition depends on the amount of clotting factor present in the blood. Individuals with less than 1% of the normal clotting factor are categorized as having severe haemophilia, while those with 1% to 5% of the normal factor have moderate haemophilia, and those with more than 5% have mild haemophilia. Symptoms of Haemophilia The symptoms of haemophilia usually appear in early childhood. The most common symptom is excessive bleeding after injuries or surgeries. People with haemophilia may also experience spontaneous bleeding, which can occur in joints, muscles, and organs. This can cause pain, swelling, and stiffness in the affected area. In severe cases, spontaneous bleeding can lead to loss of mobility, disability, and even death. Other symptoms of haemophilia include: – Blood in the urine or stool – Nosebleeds that are difficult to stop – Bruising easily – Painful or swollen joints – Delayed wound healing Diagnosis of Haemophilia Haemophilia is usually diagnosed by a blood test that measures the level of clotting factors in the blood. If the test shows low levels of clotting factors or abnormal bleeding times, a specialist in bleeding disorders may be consulted. The specialist will conduct a physical examination and may order further tests, such as genetic testing and imaging scans, to determine the severity and type of haemophilia. Treatment and Management of Haemophilia The treatment and management of haemophilia depend on the severity and type of the disorder. The main goal of treatment is to prevent bleeding by replacing the missing clotting factor in the blood. This can be done through regular infusions of plasma-derived or recombinant clotting factor concentrates. In mild cases, treatment may only be needed during surgeries or injuries. In severe cases, regular infusions may be required to prevent spontaneous bleeding. In addition to clotting factor replacement therapy, other treatments and management strategies include: – Antifibrinolytic drugs: These drugs help to promote clotting and prevent bleeding by blocking the breakdown of clots. – Physical therapy: This can help to improve joint mobility and prevent joint damage caused by bleeding. – Gene therapy: This is a novel treatment that involves introducing healthy genes into cells to replace or repair the faulty genes responsible for haemophilia. – Counselling and support groups: These can help individuals and families to cope with the emotional and psychological impact of haemophilia and provide access to information and resources for managing the disorder. Conclusion Haemophilia is a rare but severe genetic disorder that affects the body’s ability to clot blood. It can cause excessive bleeding after injuries or surgeries, spontaneous bleeding, and other symptoms that can lead to disability and death if not managed properly. Despite being relatively rare, the prevalence of haemophilia may be underestimated, especially in low-income countries where access to diagnosis and treatments is limited. The treatment and management of haemophilia depend on the severity and type of the disorder and may involve regular infusions of clotting factor, antifibrinolytic drugs, physical therapy, gene therapy, and counselling and support groups.