HEMOPHILIA is a rare bleeding disorder and a genetic condition that affects the blood's ability to clot.
Normally, when you cut yourself substances in the blood known as clotting factors combine with blood cells called platelets to make the blood sticky. This makes the bleeding stop eventually.However, in hemophilia there are not as many clotting factors as there should be in the blood. This means someone with the condition will bleed for longer than usual.
The condition is passed to a child by one or both of their parents or child can get this by spontaneous mutation.
A person can have one of two types of hemophilia, A or B. It depends on which clotting factor they are low on. If someone produces 1% or less of the affected factor, the case of hemophilia is called severe. Someone who produces 2% to 5% has a moderate case, and someone who produces 6% to 50% of the affected factor level is considered to have a mild case of hemophilia.
How anyone gets Hemophilia?
Hemophilia almost always affects boys. Why? Because the disease is an X-linked genetic disorder, passed from mother to son. Boys get an X chromosome from their mother and a Y chromosome from their father. If the mother carries the gene for hemophilia on one of her X chromosomes (girls have two X chromosomes), each of her sons will have a 50% chance of having hemophilia.
A mother who is a carrier also has a 50% chance of giving the faulty X chromosome to her daughter. That does not give the daughter the hemophilia disease, but it does result in the daughter becoming a hemophilia carrier. So it's possible one of her sons someday could have the disease.
How do Doctors know a kid has Hemophilia?
Doctors may find out that a baby has hemophilia if he bruises easily or bleeds a lot after getting a cut. Another sign is swelling in a baby's joints. Babies who are learning to crawl usually bump into things, but ordinarily this doesn't cause swelling in their joints. If they do, it's a tip-off that there may be bleeding in the joints, which usually doesn't happen from normal activities or minor bumps.
Blood tests will be done to figure out whether the baby might have hemophilia. There is also a blood test that can be done to determine if the mother is a carrier.
Even kids with severe hemophilia often live long and healthy lives. A cut or minor wound is usually no big deal for a person with hemophilia, but internal bleeding can be serious. These internal bleeding into any organ or joint can happen without any injury too. When bleeding occurs in the joints, muscles, or internal body organs, treatment is necessary.
Patients with more serious cases of hemophilia often get regular injections of the clotting factor that they're missing to prevent bleeding episodes. Kids with moderate or mild cases of hemophilia usually don't need these injections unless they have a more serious injury or require surgery.
How does it affects?
The symptoms of hemophilia can be mild to severe depending on the level of clotting factors you have. Most cases are classified as severe.
People with severe hemophilia often experience internal bleeding. This usually occurs around the joints and muscles, causing pain and stiffness. It can also lead to joint damage over time and end up with disability.
What's an INHIBITOR?
People with hemophilia have a higher quality of life today than ever before, but complications can still occur. Approximately 20-30% of people with hemophilia will develop an antibody—called an inhibitor—to the product used to treat or prevent bleeding episodes. Developing an inhibitor is one of the most serious and costly complications of hemophilia.
People with hemophilia use treatment products called factor clotting concentrates. This treatment improves blood clotting and is used to stop or prevent a bleeding episode. Inhibitors develop when the body’s immune system stops accepting the factor (factor VIII for hemophilia A and factor IX for hemophilia B) as a normal part of blood. The body thinks the factor is a foreign substance and tries to destroy it using inhibitors. The inhibitors stop the factor from working. This makes it more difficult to stop a bleeding episode. People with hemophilia who develop an inhibitor do not respond as well to treatment. Inhibitors most often appear during the first year of treatment but they can appear at any time.
Treatment for INHIBITORS
Treating people who have inhibitors is complex and remains one of the biggest challenges in hemophilia care today. The cost involved in the treatment is unimaginably very high. It is impossible for a common man to afford it.
Some treatments for people with inhibitors include the following:
• High-Dose Clotting Factor Concentrates: People who have low responding inhibitors may be treated with higher amounts of factor concentrate to overcome the inhibitor and yet have enough left over to form a clot. It is important to test the blood and measure the factor level after this new treatment schedule is established to see if the inhibitor is gone.
• Bypassing Agents: Special blood products are used to treat bleeding in people with high titer inhibitors. They are called bypassing agents. Instead of replacing the missing factor, they go around (or bypass) the factors that are blocked by the inhibitor to help the body form a normal clot. People taking bypassing agents should be monitored closely to make sure the blood is not clotting too much or clotting in the wrong place in the body. Feiba by Baxter and Novoseven rt by Novo Nordisk are the two products used by inhibitor patients. My son comes under this category.
• Immune Tolerance Induction (ITI) Therapy: The goal of ITI therapy is to stop the inhibitor reaction from happening in the blood and to teach the body to accept clotting factor concentrate treatments. With ITI therapy, people receive large amounts of clotting factor concentrates every day for many weeks or months.
ITI therapy requires specialized medical expertise, is costly, and may take a long time to work. In many cases, ITI gets rid of the inhibitor. However, patients may need to continue taking frequent, large amounts of factor concentrates for many years to keep the inhibitor from coming back. In India, nobody can afford ITI Therapy.
Women with Hemophilia
Normally, when you cut yourself substances in the blood known as clotting factors combine with blood cells called platelets to make the blood sticky. This makes the bleeding stop eventually.However, in hemophilia there are not as many clotting factors as there should be in the blood. This means someone with the condition will bleed for longer than usual.
The condition is passed to a child by one or both of their parents or child can get this by spontaneous mutation.
A person can have one of two types of hemophilia, A or B. It depends on which clotting factor they are low on. If someone produces 1% or less of the affected factor, the case of hemophilia is called severe. Someone who produces 2% to 5% has a moderate case, and someone who produces 6% to 50% of the affected factor level is considered to have a mild case of hemophilia.
How anyone gets Hemophilia?
Hemophilia almost always affects boys. Why? Because the disease is an X-linked genetic disorder, passed from mother to son. Boys get an X chromosome from their mother and a Y chromosome from their father. If the mother carries the gene for hemophilia on one of her X chromosomes (girls have two X chromosomes), each of her sons will have a 50% chance of having hemophilia.
A mother who is a carrier also has a 50% chance of giving the faulty X chromosome to her daughter. That does not give the daughter the hemophilia disease, but it does result in the daughter becoming a hemophilia carrier. So it's possible one of her sons someday could have the disease.
How do Doctors know a kid has Hemophilia?
Doctors may find out that a baby has hemophilia if he bruises easily or bleeds a lot after getting a cut. Another sign is swelling in a baby's joints. Babies who are learning to crawl usually bump into things, but ordinarily this doesn't cause swelling in their joints. If they do, it's a tip-off that there may be bleeding in the joints, which usually doesn't happen from normal activities or minor bumps.
Blood tests will be done to figure out whether the baby might have hemophilia. There is also a blood test that can be done to determine if the mother is a carrier.
Even kids with severe hemophilia often live long and healthy lives. A cut or minor wound is usually no big deal for a person with hemophilia, but internal bleeding can be serious. These internal bleeding into any organ or joint can happen without any injury too. When bleeding occurs in the joints, muscles, or internal body organs, treatment is necessary.
Patients with more serious cases of hemophilia often get regular injections of the clotting factor that they're missing to prevent bleeding episodes. Kids with moderate or mild cases of hemophilia usually don't need these injections unless they have a more serious injury or require surgery.
How does it affects?
The symptoms of hemophilia can be mild to severe depending on the level of clotting factors you have. Most cases are classified as severe.
People with severe hemophilia often experience internal bleeding. This usually occurs around the joints and muscles, causing pain and stiffness. It can also lead to joint damage over time and end up with disability.
What's an INHIBITOR?
People with hemophilia have a higher quality of life today than ever before, but complications can still occur. Approximately 20-30% of people with hemophilia will develop an antibody—called an inhibitor—to the product used to treat or prevent bleeding episodes. Developing an inhibitor is one of the most serious and costly complications of hemophilia.
People with hemophilia use treatment products called factor clotting concentrates. This treatment improves blood clotting and is used to stop or prevent a bleeding episode. Inhibitors develop when the body’s immune system stops accepting the factor (factor VIII for hemophilia A and factor IX for hemophilia B) as a normal part of blood. The body thinks the factor is a foreign substance and tries to destroy it using inhibitors. The inhibitors stop the factor from working. This makes it more difficult to stop a bleeding episode. People with hemophilia who develop an inhibitor do not respond as well to treatment. Inhibitors most often appear during the first year of treatment but they can appear at any time.
Treatment for INHIBITORS
Treating people who have inhibitors is complex and remains one of the biggest challenges in hemophilia care today. The cost involved in the treatment is unimaginably very high. It is impossible for a common man to afford it.
Some treatments for people with inhibitors include the following:
• High-Dose Clotting Factor Concentrates: People who have low responding inhibitors may be treated with higher amounts of factor concentrate to overcome the inhibitor and yet have enough left over to form a clot. It is important to test the blood and measure the factor level after this new treatment schedule is established to see if the inhibitor is gone.
• Bypassing Agents: Special blood products are used to treat bleeding in people with high titer inhibitors. They are called bypassing agents. Instead of replacing the missing factor, they go around (or bypass) the factors that are blocked by the inhibitor to help the body form a normal clot. People taking bypassing agents should be monitored closely to make sure the blood is not clotting too much or clotting in the wrong place in the body. Feiba by Baxter and Novoseven rt by Novo Nordisk are the two products used by inhibitor patients. My son comes under this category.
• Immune Tolerance Induction (ITI) Therapy: The goal of ITI therapy is to stop the inhibitor reaction from happening in the blood and to teach the body to accept clotting factor concentrate treatments. With ITI therapy, people receive large amounts of clotting factor concentrates every day for many weeks or months.
ITI therapy requires specialized medical expertise, is costly, and may take a long time to work. In many cases, ITI gets rid of the inhibitor. However, patients may need to continue taking frequent, large amounts of factor concentrates for many years to keep the inhibitor from coming back. In India, nobody can afford ITI Therapy.
Women with Hemophilia
Women with severe hemophilia (i.e. clotting factor levels <1% of normal) have two copies of the faulty gene – one on the X chromosome inherited from their father and one on the X chromosome inherited from their mother. This is very rare.
If you are a woman with hemophilia, it is more likely that you have one faulty copy of the gene and one normal copy. This means you are a ‘carrier’ and likely have enough clotting factors from your one normal X chromosome to prevent serious bleeding issues. However, up to 50 percent of carriers may have an increased risk of bleeding.
Women who have bleeding related to hemophilia are sometimes known as ‘symptomatic carriers’. You may also be referred to as having mild hemophilia if your clotting factor levels fall within the range for this i.e. 5–<40% of normal clotting factor.
Examples of having a bleeding tendency or symptoms may include:
- Bruising easily.
- Heavy menstrual bleeding.
- Prolonged bleeding after childbirth.
- Excessive bleeding after dental surgery or extractions, other surgery or accidents.
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