<p>Haemophilia is a hereditary genetic disorder that impairs the body’s ability to control blood clotting or coagulation. Haemophilia A is the most common form of the disorder. In recent decades, with improved medication and treatment modalities, haemophiliacs have become indistinguishable from other individuals. The severity of the condition is determined by factor levels: less than 1 per cent is considered ‘severe’, 1 to 5 per cent is ‘moderate’, and between 5 and 40 per cent is considered ‘mild’.<br /><br />The most common type of haemophilia is caused due to the deficiency of Factor VIII. This is known as Classical Haemophilia or Haemophilia A. Almost 80 per cent of cases fall in this category.<br /><br />The second type is when there is a deficiency of Factor IX. This is known as ‘Christmas Disease’ or Haemophilia B, and accounts for the remaining 20 per cent of cases.<br /><br />Severity & symptoms<br /><br />The level of factor deficiency determines the severity of the disorder. Patients with severe haemophilia will typically suffer from frequent bleeding, while patients with mild haemophilia will suffer minor symptoms except during post surgery or severe trauma. <br /><br />The signs of haemophilia are:<br /><br />- Big bruises<br />- Bleeding into muscles and joints, especially in the knees, elbows, and ankles<br />- Sudden bleeding inside the body for no clear reason<br />- Prolonged bleeding after a cut, tooth removal, surgery, or an accident<br />- Internal bleeding in the vital organs. This usually happens after the individual suffers serious trauma.<br /><br />Prolonged bleeding or repeated bouts of bleeding are standard symptoms of haemophilia. Internal bleeding is common in people with severe haemophilia and a few individuals with moderate haemophilia. <br /><br />A characteristic form of internal bleed is ‘joint bleed’, where the blood enters the space between joints. This is most common with severe haemophiliacs and can occur spontaneously (even without evident trauma). If not treated immediately, joint bleeds can lead to permanent damage and disfigurement. <br /><br />Haemophilia is a genetic disorder and the most characteristic feature is its mode of inheritance, affecting predominantly males. This is because the critical blood clotting protein gene for Factor VIII/ IX is carried in the X chromosome. <br /><br />Haemophilia is usually inherited and about one in every 5,000 males is born with the disorder. About one-third of the new cases are caused by a new mutation of the gene in the mother or the child. In these cases, there is no previous history of haemophilia in the family. <br /><br />When the father has haemophilia but the mother does not, none of the sons will inherit haemophilia, but all the daughters could carry the gene.<br /><br />Women with the haemophilia gene are carriers as they can pass it on to their children. When the mother is a carrier and the father does not have haemophilia, there is a 50 per cent chance that the son will have haemophilia and a 50 per cent chance that the daughter will become a carrier.<br /><br />Diagnosis<br /><br />As the two types of haemophilia are clinically indistinguishable, a laboratory diagnosis is crucial to identify the specific factor deficiency. With detailed clinical history and examination, certain blood clotting tests need to be done.<br /><br />The mainstay in the treatment of haemophilia is replacing the deficient clotting factor called the Anti Haemophilic Factor (AHF) — Factor VIII or IX, at every instance of bleeding. These life-saving medicines can be extracted from a pool of human plasma.<br />Risks<br /><br />- Disability: Repeated bleeding at the joints and muscles can lead to chronic damage. If not treated properly, it could lead to disabling arthritis.<br /><br />- Transfusion-transmissible infections: During a transfusion, patients are at risk of contracting blood-borne infections like HIV or hepatitis, especially during Blood Products Replacement therapy. Ensure that the surgeon takes measures to prevent it.<br />- Inhibitors: Some patients can develop antibodies that fight the inserted factor and the management of this can become complicated.<br /><br />As haemophilia can be a chronic, painful and debilitating disorder, the family of the haemophiliac needs proper counselling and psycho-social support. Educating the patient and the family remains the single most useful weapon in the fight against haemophilia and its risks.</p>
<p>Haemophilia is a hereditary genetic disorder that impairs the body’s ability to control blood clotting or coagulation. Haemophilia A is the most common form of the disorder. In recent decades, with improved medication and treatment modalities, haemophiliacs have become indistinguishable from other individuals. The severity of the condition is determined by factor levels: less than 1 per cent is considered ‘severe’, 1 to 5 per cent is ‘moderate’, and between 5 and 40 per cent is considered ‘mild’.<br /><br />The most common type of haemophilia is caused due to the deficiency of Factor VIII. This is known as Classical Haemophilia or Haemophilia A. Almost 80 per cent of cases fall in this category.<br /><br />The second type is when there is a deficiency of Factor IX. This is known as ‘Christmas Disease’ or Haemophilia B, and accounts for the remaining 20 per cent of cases.<br /><br />Severity & symptoms<br /><br />The level of factor deficiency determines the severity of the disorder. Patients with severe haemophilia will typically suffer from frequent bleeding, while patients with mild haemophilia will suffer minor symptoms except during post surgery or severe trauma. <br /><br />The signs of haemophilia are:<br /><br />- Big bruises<br />- Bleeding into muscles and joints, especially in the knees, elbows, and ankles<br />- Sudden bleeding inside the body for no clear reason<br />- Prolonged bleeding after a cut, tooth removal, surgery, or an accident<br />- Internal bleeding in the vital organs. This usually happens after the individual suffers serious trauma.<br /><br />Prolonged bleeding or repeated bouts of bleeding are standard symptoms of haemophilia. Internal bleeding is common in people with severe haemophilia and a few individuals with moderate haemophilia. <br /><br />A characteristic form of internal bleed is ‘joint bleed’, where the blood enters the space between joints. This is most common with severe haemophiliacs and can occur spontaneously (even without evident trauma). If not treated immediately, joint bleeds can lead to permanent damage and disfigurement. <br /><br />Haemophilia is a genetic disorder and the most characteristic feature is its mode of inheritance, affecting predominantly males. This is because the critical blood clotting protein gene for Factor VIII/ IX is carried in the X chromosome. <br /><br />Haemophilia is usually inherited and about one in every 5,000 males is born with the disorder. About one-third of the new cases are caused by a new mutation of the gene in the mother or the child. In these cases, there is no previous history of haemophilia in the family. <br /><br />When the father has haemophilia but the mother does not, none of the sons will inherit haemophilia, but all the daughters could carry the gene.<br /><br />Women with the haemophilia gene are carriers as they can pass it on to their children. When the mother is a carrier and the father does not have haemophilia, there is a 50 per cent chance that the son will have haemophilia and a 50 per cent chance that the daughter will become a carrier.<br /><br />Diagnosis<br /><br />As the two types of haemophilia are clinically indistinguishable, a laboratory diagnosis is crucial to identify the specific factor deficiency. With detailed clinical history and examination, certain blood clotting tests need to be done.<br /><br />The mainstay in the treatment of haemophilia is replacing the deficient clotting factor called the Anti Haemophilic Factor (AHF) — Factor VIII or IX, at every instance of bleeding. These life-saving medicines can be extracted from a pool of human plasma.<br />Risks<br /><br />- Disability: Repeated bleeding at the joints and muscles can lead to chronic damage. If not treated properly, it could lead to disabling arthritis.<br /><br />- Transfusion-transmissible infections: During a transfusion, patients are at risk of contracting blood-borne infections like HIV or hepatitis, especially during Blood Products Replacement therapy. Ensure that the surgeon takes measures to prevent it.<br />- Inhibitors: Some patients can develop antibodies that fight the inserted factor and the management of this can become complicated.<br /><br />As haemophilia can be a chronic, painful and debilitating disorder, the family of the haemophiliac needs proper counselling and psycho-social support. Educating the patient and the family remains the single most useful weapon in the fight against haemophilia and its risks.</p>
