What Is Hemophilia?
Hemophilia is a rare disorder where your blood normally does not clot due to the lack of sufficient proteins for blood clotting (clotting factors), if you’ve got hemophilia, after an injury, you may bleed longer than you would if your blood were normally clotted.
Hemophilia is a rare, hereditary bleeding disorder where blood normally can not clot (form a mass) at a wound or injury site, the disorder occurs due to missing or not working properly certain blood clotting factors.
because a clot doesn’t form, a cut or wound can cause extensive bleeding, there may also be spontaneous internal bleeding, especially in the joints and muscles.
Hemophilia is an inherited bleeding disorder in which an individual lacks or has low levels of certain proteins called “clotting factors” and as a result the blood does not coagulate properly, this leads to too much bleeding, there are 13 types of coagulation factors that work with platelets to assist the blood clot, platelets are tiny cells in your bone marrow that form.
Approximately one in 10,000 people are born with this disease, according to the World Hemophilia Federation (WFH).
How common is hemophilia?
Hemophilia is a rare disorder, hemophilia a affects one in five thousand to ten thousand males, hemophilia B is less common, affecting 1 in males between 25,000 and 30,000.
Approximately 60% to 70% of people with hemophilia A have the severe form of the disorder, approximately 15% have the moderate form, and the rest have mild hemophilia, in all races and ethnic groups, hemophilia can occur.
What causes hemophilia?
Only the X chromosome finds the genes that regulate the production of factors VIII and IX. In either factor VIII or factor IX gene on the X chromosome, hemophilia is caused by mutations.
There are several types of hemophilia that are inherited in most forms, approximately 30 percent of people with hemophilia, however, have no disorder family history, an unexpected change (spontaneous mutation) occurs in these people in one of the hemophilia-related genes.
If a woman carries the abnormal gene on one of her chromosomes(females have a pair of X chromosomes), she’s not going to have hemophilia, but she’s going to be a disorder carrier, that means she can pass on her kids the gene for hemophilia.
Fifty percent of her sons are likely to inherit the gene and be born with hemophilia, there’s also a 50% chance that any of her daughters will be gene carriers without hemophilia itself.
What are the symptoms of hemophilia?
Hemophilia signs and symptoms vary depending on your clotting factor level, if the level of your coagulation factor is slightly lower, you can bleed only after surgery or trauma, you may experience spontaneous bleeding if your deficiency is severe.
Common signs of hemophilia include:
- Blood in your urine or stool.
- Nosebleeds that have no known cause.
- In your joints, pain, swelling or tightness.
- Many big or deep blackheads.
- Unexplained and excessive bleeding from or after surgery or dental work.
- Blood in the stomach or urine.
- In infants, irritability unexplained.
- Bleeding after shots like vaccinations.
- Nosebleeds that are frequent and hard to stop.
- Unusual bleeding following vaccinations.
- Bleeding after a difficult delivery in an infant’s head.
- Bleeding through the joints. This can cause swelling and pain or tightness in the joints ; the knees, elbows and ankles are often affected.
- Bleeding in the skin (bruising) or muscle and soft tissue that causes blood to build up in the area (called a hematoma).
- Bleeding of the mouth and gums, and bleeding after losing a tooth, which is difficult to stop.
- Bleeding after circumcision (surgery to remove the skin hood on male babies, called the foreskin, covering the head of the penis).