際際滷

際際滷Share a Scribd company logo

Hemophilia

Mahalingam Ramaswamy
Mahalingam Ramaswamy

Bumps and scrapes that normally cause only minor injuries can be serious for children with hemophilia due to their inability to clot blood properly. Hemophilia is a rare genetic bleeding disorder where the blood is missing or deficient in clotting factor VIII or IX, preventing normal clot formation. While symptoms vary in severity, treatment involves periodic replacement of the missing clotting factor through intravenous infusions to prevent internal bleeding and joint damage, though these treatments are very expensive.

1 of 2
Bumps and scrapes are a part of every childs life. For most kids, a tumble off a bike or a stray kick in a soccer game means a temporary bruise or a healing scab. However, for kids with hemophilia, these normal traumas of childhood are reason for extra concern. Hemophilia is a rare bleeding disorder that prevents the blood from clotting properly. Currently, about 17,000 people in India have hemophilia (In Kerala, about 1500 registered, and a lot more undiagnosed). About 1 in every 5,000 boys is born with hemophilia; girls are more rarely affected by this genetic condition linked to gender. A male cant pass the gene for hemophilia to his sons, though all his daughters will be carriers of the disease gene. Each male child of a female carrier has a 50% chance of having hemophilia. What Is Hemophilia? Human blood contains special proteins, known as clotting factors. Identified by Roman numerals, clotting factors help stop bleeding and allow a blood vessel to heal after an injury. The last step in the clotting process (also called coagulation) is the creation of a net that closes the torn blood vessel and stops the bleeding. This part of the process involves clotting factors VIII and IX. People with hemophilia are deficient in one of those factors due to their abnormal genes and, as a result, their blood cant clot properly. Hemophilia A, also known as factor VIII deficiency, is the cause of about 80% of cases. Hemophilia B, which makes up the majority of the remaining 20% of cases, is a deficiency of factor IX. Patients are classified as mild, moderate, or severe, based on the amount of factor present in the blood. A patient whose blood tests suggest severe hemophilia will usually bleed frequently, whereas another patient with a milder form will usually bleed only rarely. However, there is a range of severity within each group. The reasons for this variability may relate to other clotting factors or to differences in behaviors that present different risks of injury. Signs and Symptoms Signs and symptoms of hemophilia vary, depending on severity of the factor deficiency and the location of the bleeding. Few babies are diagnosed with hemophilia within the first 6 months of life because theyre unlikely to sustain an injury that would lead to bleeding. For example, only about 30% of males with hemophilia bleed excessively when circumcised and only 1% to 2% of newborns with hemophilia have bleeding within the skull (called an intracranial hemorrhage).
Treatment Although hemophilia is a lifelong condition with no cure (other than liver transplantation), it can be successfully managed with clotting factor replacement therapy periodic infusions of the deficient clotting factor into the childs bloodstream. Factor replacement may be given through an intravenous (IV) line either at the hematology clinic or at home by a visiting nurse or by parents (and even older patients) who have undergone special training. Your childs hemophilia team (doctors called hematologists who specialize in treating blood disorders, nurse practitioners, nurses, and social workers) will teach you how to prepare the concentrated clotting factor and when and how to inject it into your childs vein. Once the clotting factor is infused, it begins to work quickly and helps prevent joint damage. Although these treatments are effective, they are also expensive. Anti-Hemophilia Factor (AHF) is measured in terms of International Units (IU). For an average, a PWH may need a minimum of 250 IU for even the most basic bleeds. This requirement may vary depending on the nature of bleed, location of bleed, weight, etc. The medicine is imported from Canada and USA, and even after a lot of subsidizing, the cost remains high. In India, each IU of AHF costs around Rs.15, and every year, a PWH needs around 20,000 to 40,000 IU of AHF. This is since the effect of one infusion lasts only for 8-12 hours, and then the dose has to be repeated. In such cases, there is a requirement of atleast 500 IU (amounting to Rs.7500/-) per infusion. So, the cost can mount to the tune of Rs. 3 lakhs to Rs. 6 lakhs. This makes this disease a hard to afford one.

More Related Content

Hemophilia

  • 1. Bumps and scrapes are a part of every childs life. For most kids, a tumble off a bike or a stray kick in a soccer game means a temporary bruise or a healing scab. However, for kids with hemophilia, these normal traumas of childhood are reason for extra concern. Hemophilia is a rare bleeding disorder that prevents the blood from clotting properly. Currently, about 17,000 people in India have hemophilia (In Kerala, about 1500 registered, and a lot more undiagnosed). About 1 in every 5,000 boys is born with hemophilia; girls are more rarely affected by this genetic condition linked to gender. A male cant pass the gene for hemophilia to his sons, though all his daughters will be carriers of the disease gene. Each male child of a female carrier has a 50% chance of having hemophilia. What Is Hemophilia? Human blood contains special proteins, known as clotting factors. Identified by Roman numerals, clotting factors help stop bleeding and allow a blood vessel to heal after an injury. The last step in the clotting process (also called coagulation) is the creation of a net that closes the torn blood vessel and stops the bleeding. This part of the process involves clotting factors VIII and IX. People with hemophilia are deficient in one of those factors due to their abnormal genes and, as a result, their blood cant clot properly. Hemophilia A, also known as factor VIII deficiency, is the cause of about 80% of cases. Hemophilia B, which makes up the majority of the remaining 20% of cases, is a deficiency of factor IX. Patients are classified as mild, moderate, or severe, based on the amount of factor present in the blood. A patient whose blood tests suggest severe hemophilia will usually bleed frequently, whereas another patient with a milder form will usually bleed only rarely. However, there is a range of severity within each group. The reasons for this variability may relate to other clotting factors or to differences in behaviors that present different risks of injury. Signs and Symptoms Signs and symptoms of hemophilia vary, depending on severity of the factor deficiency and the location of the bleeding. Few babies are diagnosed with hemophilia within the first 6 months of life because theyre unlikely to sustain an injury that would lead to bleeding. For example, only about 30% of males with hemophilia bleed excessively when circumcised and only 1% to 2% of newborns with hemophilia have bleeding within the skull (called an intracranial hemorrhage).
  • 2. Treatment Although hemophilia is a lifelong condition with no cure (other than liver transplantation), it can be successfully managed with clotting factor replacement therapy periodic infusions of the deficient clotting factor into the childs bloodstream. Factor replacement may be given through an intravenous (IV) line either at the hematology clinic or at home by a visiting nurse or by parents (and even older patients) who have undergone special training. Your childs hemophilia team (doctors called hematologists who specialize in treating blood disorders, nurse practitioners, nurses, and social workers) will teach you how to prepare the concentrated clotting factor and when and how to inject it into your childs vein. Once the clotting factor is infused, it begins to work quickly and helps prevent joint damage. Although these treatments are effective, they are also expensive. Anti-Hemophilia Factor (AHF) is measured in terms of International Units (IU). For an average, a PWH may need a minimum of 250 IU for even the most basic bleeds. This requirement may vary depending on the nature of bleed, location of bleed, weight, etc. The medicine is imported from Canada and USA, and even after a lot of subsidizing, the cost remains high. In India, each IU of AHF costs around Rs.15, and every year, a PWH needs around 20,000 to 40,000 IU of AHF. This is since the effect of one infusion lasts only for 8-12 hours, and then the dose has to be repeated. In such cases, there is a requirement of atleast 500 IU (amounting to Rs.7500/-) per infusion. So, the cost can mount to the tune of Rs. 3 lakhs to Rs. 6 lakhs. This makes this disease a hard to afford one.