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Living with Hemophilia
Transcript of Living with Hemophilia
What is Hemophilia?
Hemophilia is a bleeding disorder that is quite rare. It prevents blood from clotting which can be a problem if you cut or injure yourself. The two most common types of Hemophilia are Hemophilia A and Hemophilia B. Hemophilia occurs predominantly in males which is to say that females very rarely have hemophilia. We can go talk about why later on.
Type of cell-communication breakdown that causes Hemophilia
Your genes are bluprints in your cell that tell it what to do. Genes live in chromosomes. Each of your cells contain 46 chromosomes arranged in 23 pairs. Females have two X chromosomes while males have and X and Y chromosome pair. Genes that produce VIII and IX reside on X chromosomes which is why hemophilia is most common in males. And because females have two X chromosomes, if one X chromosome has a problem the other one can mask it's problem.Hemophilis is a genetic disease caused by the muation of a chromosome inside a cell.
Symptoms of Hemophilia
When I was in junior high, one of my friend's brothers was a hemophiliac. I never knew why he didn't play soccer with the other kids or why he didn't go rock climbing with us until he spoke to the whole school about his disorder. As a patient he said he understood what it meant and what he had to live with but as a young boy he said that he was afraid and felt things were unfair towards him. He eventually told everyone about his treatments but more importantly he told everyone about how he accepted hemophilia and how he learned to livw ith it.
You have many options of treatment.
Although it seems scary, hemophilia has a number of treatments that make it much easier and safer to live with.
Replacement Therapy: Concentrates of clotting factors VII or IX are slowly dipped or injected into a vein to help replace the missing or low clotting factors.
Clot factors are made from human blood which is screened to prevent the spread of diseases.
Desmopressin is a man made hormone for mild hemophilia A
Antifibrinolytic Medicines may be used with replacement therapy usually given as a pill and they help keep blood clots from breaking down.
Treatment of a specific bleeding site- pain medicines, steroids and physical therapy.
You do have a lot of options if you have hemophilia and you should always have the choice of how you feel you want to treat it.
It is also called classic Hemophilia or factor VII deficiency. It is caused by mutations in your F8 gene.
This may sound really complicated but it can be explained in much simpler terms and it will be.
It is also called Christmas disease or factor IX deficiency. It is causes by mutations in the F9 Gene.
Explaining the cause in simpler terms
A better way of understanding would be to say that your blood needs a protein called coagulation factor VII to clot. The reason why hemophilia is caused by mutations in the F8 and F9 Gene is because F8 and F9 genes produce the coagulation factor VII. Coagulation is a term that refers to the process by which liquid blood transforms into a gel or semisolid blood clot to prevent excessive bleeding. As a result, if the Genes are mutated, then the protein it produces will also be mutated. Sometimes mutations in the gene can even reduce the amount of proteins produced. Mutated or missing proteins can not help your blood clot when you get cuts or injuries.
The symptoms of Hemophilia
- excessive bleeding (depending of severity of hemophilia)
- bleeding in the mouth from a cut or bite or losing a tooth
- nose bleeds for no obvious reason
-heavy bleeding from a minor cut
- Bleeding in the kidneys causes bloody urine. Bleeding in the intestines causes bloody stool and bleeding in the muscles causes large bruises
- Bleeding in the joints ( tightness, pain, swelling, painful to touch or bend. needs to be treated immediately or joint could be damaged.
- Bleeding in the brain which causes long lasting painful headaches, neck pain or stiffness. repeated vomiting, sleepiness, clumsiness of arms or legs and convulsions or seizures.
World Hemophilia Day
Living with the disorder
https://www.youtube.com/ watch ?v=9zSys5iReCc, AnaKaren Causes of Genetic Hemophilia, mmHTH
https://www.youtube.com/ watch? v=IZVwGf -8qRQ, Skylar: Hemophilia Treatment, Darthmouthhitchcock
http://youtube.com/ watch? v= tG4A6JKwvOM, Novo Norsdisk Marks world hemophilia day, 3BL Media