Biology Genetic Disease Project

Reason why I chose this disease

My niece has this disease, because of this disease and how severe it is she will never be able to have children. This is why I chose Hemophilia, she acts and plays like a normal child, she looks the same, and even though it is very mild she has other diseases too one that is very similar to hemophilia that robs her of having children. They have to make her sterile because if she has her period she might bleed out. I hope theres a cure one day but for now I will just study it and understand it.

Definition of Hemophilia

Hemophilia is a genetic disease thats affects the blood making it harder for it to clot. Small cuts aren't much of a problem and the patient can bruise easier but the main concern is internal bleeding. The affected can bleed out from internal bleeding or their organs can be damaged.

Hemophilia Symptoms

The symptoms all vary according to your clotting-factor level but they follow as: Excessive and unexplained bleeding after surgery, large bruises, pain and swelling in joints, blood in urine, unusual bleeding after vaccinations, nosebleeds with unexplained cause. Thats some of them the more dangerous symptoms are: Neck pain, double vision, extreme fatigue, repeated vomiting, swelling and feeling of warmth from joints along with pain.
Hemophilia Presentation
My Life With Hemophilia: Brandston

Causes of Hemophilia

It is a rare genetic disorder that is inherited. Its due to a lack of the blood-clotting protein. It can also be a genetic mutation to that might make it show up in a family that has no history of hemophilia but most patients have inherited it.
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How Hemophilia is inherited

It is inherited from the X chromosome most of the time if its Hemophilia A or B. If its Hemophilia C then it can be inherited from either parent. It is a recessive trait so it would need the 2 genes of it to match up.
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Treatments for Hemophilia

Hemophilia has no cure but different treatments depending how severe it is. If its a mild form of Hemophilia A they do a slow injection of the hormone desmopressin (DDAVP) into a vein to help induce clotting factor. If its moderate to severe Hemophilia A or B they only stop bleeding after an infusion recombinant clotting factor. If its Hemophilia C they are missing clotting factor XI, and its only available in Europe but in the US you can only get plasma infusions to stop bleeding episodes.

How its diagnosed

It is usually diagnosed at 9 months or 2 years but mild Hemophilia isn't diagnosed till excessive bleeding after surgery. Your child might be referred to a hematologist a doctor who specializes in blood disorders. They look back at family history along with any unusual signs after birth.

Effects on population

It effects everyone of every race it isn't specific. Its doesn't matter on location since it is genetic it can be anywhere in a population. It is a rare disease that is mostly genetic but can be the result of spontaneous mutation and may even result from inbreeding. Hemophilia affects mostly men but it can also affect women. Men either have hemophilia or don't but women they can have it and be affected by it or just be a carrier of it.

What I discovered

I discovered that there are different types of hemophilia and that a lot of them are treatable. The treatments wont cure it but will make life a little easier for the affected. I learned that it even though it is mostly inherited it can also be a mutation too.