Fig. 1: Phenotypic and dysmorphic features of patient 1 (A and B),...
Everything You Need To Know About Hemophilia
Hemophilia is a rare bleeding disorder characterized by low levels of proteins called "clotting factors."
Hemophilia is an inherited blood disorder in which your blood does not clot properly. This can cause you to bleed more easily and sometimes lead to excessive bleeding, even from minor cuts or injuries.
There are several types of hemophilia, which are characterized by low levels of certain clotting factors. Healthcare professionals base the overall severity of the condition on the amount of factors present in the blood.
The exact number of people living with hemophilia is not known, but it affects more people assigned male at birth than those assigned female.
According to the Centers for Disease Control and Prevention (CDC), around 33,000 males in the United States have hemophilia.
Keep reading to learn more about the types, symptoms, causes, and treatments of hemophilia.
The symptoms of hemophilia may vary based on the severity of the condition.
In mild cases of hemophilia, you may only experience excessive bleeding after experiencing trauma, such as tooth extraction, vaccinations, surgery, or injury.
Symptoms of mild hemophilia usually only occur after an incident, so doctors may not diagnose it until you reach adulthood. In more severe cases, a doctor may diagnose the condition following a circumcision shortly after birth.
Hemophilia C is generally considered to be a mild form of hemophilia, which means its symptoms and signs align with those of mild cases of A or B.
The primary cause of hemophilia is a mutation in the genes that control and regulate the development of clotting factors. This is called congenital, which means you acquire the trait from one or both of your parents at birth.
About two-thirds of type A and B cases of hemophilia occur in people with a family history of the condition.
It's also possible to develop acquired hemophilia with no personal or family history of hemophilia. This is known as acquired hemophilia, which is a rare autoimmune disorder.
An autoimmune disorder occurs when your immune system attacks healthy cells. In acquired hemophilia, the immune system creates antibodies that attack the clotting factors, most frequently factor 8 (acquired hemophilia A).
Genetics play a role in all three types of hemophilia.
Both hemophilia A and hemophilia B involve a recessive mutation on the X chromosome. Biological males typically have an X and Y chromosome, while biological females typically have two X chromosomes.
This means biological females are less likely to inherit hemophilia since they almost always have at least one non-mutated X chromosome. Instead, they can become carriers if they acquire one copy of the mutated X chromosome.
Being a carrier means that the person will not show any signs or symptoms of the condition, but they can still pass it on to their children. For example, biological males can inherit hemophilia if their mother is a carrier and they get the mutated X gene from them.
Hemophilia C is an autosomal inherited form of the disease. It affects biological males and females equally because the genetic defect that causes this type of hemophilia isn't related to sex chromosomes.
In the United States, hemophilia C affects about 1 in 100,000 people.
Hemophilia is a condition that's typically passed from parent to child. When someone is pregnant, there's no way of knowing whether the baby has the condition.
However, if your eggs are fertilized in a clinic using in vitro fertilization, they can be tested for the condition. Then, only the eggs without hemophilia can be implanted.
If you're worried your baby may develop hemophilia, preconception and prenatal counseling could help you understand your risk of passing hemophilia on to your baby.
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