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Hemophilia-Causes, Symptoms, Diagnosis of Hemophilia You Should Know About


What is Hemophilia?
Ans. Hemophilia is a genetic clotting disorder in which blood is unable to clot normally. In other words, Hemophilia is an inherited bleeding disorder in which a person lacks or has low levels of certain proteins called “clotting factors” and as a result, the blood doesn’t clot properly. This can lead to spontaneous bleeding as well as bleeding following injuries or surgery. Blood contains many proteins called clotting factors, clotting factor is a protein in blood that controls bleeding that can help to stop bleeding.  People with hemophilia have a deficiency in factor VIII (8) or factor IX (9). The severity of hemophilia that a person has is determined by the amount of factor in the blood. The lower the amount of the factor, the more likely it is that bleeding will occur which can lead to serious health problems.

Causes of Hemophilia-
Hemophilia is caused by a mutation or change, in one of the genes, that provides instructions for making the clotting factor proteins needed to form a blood clot. This change or mutation can prevent the clotting protein from working properly or to be missing altogether. These genes are located on the X chromosome. Males have one X and one Y chromosome (XY) and females have two X chromosomes (XX). Males inherit the X chromosome from their mothers and the Y chromosome from their fathers. Females inherit one X chromosome from each parent.
The x chromosome contains many genes that are not present on the Y chromosome. This means that males only have one copy of most of the genes on the X chromosome, whereas females have 2 copies. Thus, males can have a disease like hemophilia if they inherit an affected X chromosome that has a mutation in either the factor VIII or factor IX gene. Females can also have the same, but this is much rarer. In such cases, both X chromosomes are affected or one is affected and the other is missing or inactive. In these females, bleeding symptoms may be similar to males with this same disorder.
A female with one affected X chromosome is a “carrier” of hemophilia. Sometimes a female who is a carrier can have symptoms of hemophilia. In addition, she can pass the affected X chromosome with the clotting factor gene mutation on to her children. Learn more about the inheritance pattern for hemophilia.
Even though disorder runs in families, some families have no prior history of family members with hemophilia. Sometimes, there are carrier females in the family, but no affected boys, just by chance. However, about one-third of the time, the baby with hemophilia is the first one in the family to be affected by a mutation in the gene for the clotting factor.

Bleeding into the joints: Bleeding within joints that can lead to chronic joint disease, swelling and pain or tightness; it often affects the knees, elbows, and ankles.
Bleeding in the head and sometimes in the brain which can cause long-term problems, such as seizures and paralysis.
Bleeding into the skin (which is bruising) or muscle and soft tissue causing a build-up of blood in the area (called a hematoma).
Bleeding from the mouth and gums, and bleeding that is hard to stop after losing a tooth.
Bleeding after circumcision (surgery performed on male babies to remove the hood of skin, called the foreskin, covering the head of the penis).
Bleeding after having shots, such as vaccinations.
Bleeding in the head of an infant after a difficult delivery.
Blood in the urine or stool.
Frequent and hard-to-stop nosebleeds.

Many people who have or have had family members with hemophilia will ask that their baby boys get tested soon after birth.
About one-third of babies who are diagnosed with this rare disorder have a new mutation not present in other family members. In these cases, a doctor might check for hemophilia if a newborn is showing certain signs of the disorder.
To make a diagnosis, doctors would perform certain blood tests to show if the blood is clotting properly. If it does not, then they would do clotting factor tests, also called factor assays, to diagnose the cause of the bleeding disorder.
A patient should consult immediately with a Doctors if he/she see above-mentioned symptoms. Many Doctors such as a Hematologist, Orthopedic Surgeons, Pediatrician. Apart From that patient can also consult Physiotherapist that will help patient to guide properly for exercise and its related treatments.

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