Hemophilia symptoms, types and treatments
If you’re concerned that you might have a bleeding disorder, or your doctor has told you that you could have an issue with clotting, then the problem might be linked to hemophilia. This worrying condition is an inherited bleeding disorder which happens when a person doesn’t have the right number of clotting factors in the blood. This means that you might bleed for longer than most people as a result of an injury.
There are various different types of clotting factors in a person’s blood, and each is a form of protein that works to help the blood start clotting. Platelets work alongside clotting factors to plug a wound and stop bleeding.
Hemophilia is not a very common disease, but approximately one in every 10,000 people are born with the problem. People who have the issue bleed more easily than most, and they often find that their blood takes much longer to clot too. Additionally, people who suffer with hemophilia can experience internal and spontaneous bleeding, and may suffer from painful and swollen joints because blood seeps into the joints.
Hemophilia is rare, but if you’re diagnosed with it, then it’s important to make sure that you have the right treatment strategy in place, as the condition can come with life-threatening complications.
The Different Types of Hemophilia:
There are three common forms of hemophilia for those who suffer from the condition, and they’re known as hemophilia A, B, and C. The “A” version of the disease is the most common, and it’s caused by a deficiency in a substance known as factor VIII. According to experts, around eight in every ten people with hemophilia have this version of the disease.
Hemophilia B is the second most common option, followed by hemophilia C, which is a milder form of the disease, caused by a lack of factor XI. The people who have this rare type of hemophilia don’t generally experience some of the common symptoms associated with the condition, including spontaneous bleeding.
Importantly, doctors recognize hemophilia as a genetic condition, which means that it’s something you can inherit from other members of your family. As of now, there is no cure available for this disease, but there are treatments available that can keep the symptoms to a minimum. In incredibly rare cases, the disease can develop following birth, and this happens in people who have an immune system which attacks factors IX and VIII.
The Symptoms of Hemophilia:
The symptoms that you experience with hemophilia will depend on how severe is your deficiency. People who only have a very mild deficiency of a certain clotting factor will likely only bleed if they experience some kind of trauma. However, if you have a severe deficiency, you might bleed for almost no reason.
Spontaneous bleeding caused by hemophilia can lead to bleeding gums, large bruises that can’t be explained, blood in the stool and urine, or excessive bleeding following an injury. Some people suffer from frequent nosebleeds, and many will experience some pain in the joints if blood gets into the gaps between the joints.
According to experts, hemophilia is caused by a problem with the coagulation cascade, which is the process in your body that often works to stop bleeding. The body works with clotting factors to close a wound, but if you don’t have enough of those clotting factors, then you might bleed for longer, or without an obvious reason.
The Role of Genetics in Hemophilia:
As mentioned above, hemophilia is a genetic condition that is passed down through families. The issue is caused by a defect in the gene that determines how the body makes various clotting factors like VIII, XI, or IX. Each of these genes are located in the X chromosome.
Although anyone with a family history of hemophilia generally has a higher chance of inheriting the disease, it’s worth noting that some factors can make your chances of suffering from this condition more significant. For instance, the A and B versions of the condition are typically more common in males than in females. This is a result of the genetic transmission of the disease.
However, Hhemophilia type C is something that is known as an “autosomal” form of the inherited clotting disease. This means that it affects both females and males in equal amounts. Because the genetic defect that causes this form of hemophilia doesn’t have any connection to the sex chromosomes, you’re equally likely to be affected by it, regardless of whether you’re a male or a female.
According to experts, the “C” version of the hemophilia disease might be most common in people of Ashkenazi Jewish descent, but it’s also something that’s common in people of other ethnic groups too. On average, one in 100,000 people in the United States have this condition.
Treating Hemophilia:
As noted above, hemophilia is a very rare condition, and one that doesn’t yet have a cure. However, just because this condition cannot be cured, doesn’t mean that there are no options available for people who want to get a handle on their symptoms. The type of hemophilia you have will dictate what kind of treatment your doctor offers you.
For example, if you’re diagnosed with hemophilia type A, then your doctor is likely to treat you with a hormone provided by prescription. This hormone is known as desmopressin, which can be through an injection. The medication works because it stimulates the various factors in your blood that are responsible for helping your blood to clot normally. Typically, this form of treatment can help you to keep your symptoms to a minimum, and may reduce some of the risks associated with hemophilia.
On the other hand, hemophilia type B can be treated when your doctor infuses your blood with clotting factors from a donor. Sometimes, the factors you are given might be provided in a synthetic format, and these are known as recombinant clotting factors. Finally, hemophilia C can be treated using a plasma infusion treatment which works to stop excessive bleeding. This treatment is not yet available in the US, but it is already used in Europe.
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