Hemophilia is a group of hereditary genetic disorders that impair the body's ability to control blood clotting or coagulation, which is used to stop bleeding when a blood vessel is broken.
Haemophilia A (clotting factor VIII deficiency) is the most common form of the disorder, occurring at about 1 in 5,000–10,000 male births.
Haemophilia B (factor IX deficiency) occurs at about 1 in about 20,000–34,000 male births.
CAUSES
It's caused by a defect in one of the genes that determine how the body makes blood clotting factor VIII or IX. These genes are located on the X chromosomes.
Chromosomes come in pairs. Females have two X chromosomes, while males have one X and one Y chromosome. Only the X chromosome carries the genes related to clotting factors.
A male who has the abnormal gene on his X chromosome will have hemophilia. A female must have the abnormal gene on both of her X chromosomes to have hemophilia; this is very rare.
A female is a "carrier" of hemophilia if she has the abnormal gene on one of her X chromosomes. Even though she doesn't have the condition, she can pass the gene on to her children.
Examples of how hemophilia is inherited
Example 1
- The father doesn't have hemophilia (that is, he has two normal chromosomes—X and Y). The mother is a carrier of hemophilia (that is, she has one abnormal X chromosome and one normal X chromosome).
- Each daughter has a 50 percent chance of inheriting the abnormal gene from her mother and being a carrier. Each son has a 50 percent chance of inheriting the abnormal gene from his mother and having hemophilia.
Example 2
- The father has hemophilia (his X chromosome is abnormal). The mother isn't a hemophilia carrier (she has two normal X chromosomes).
- Each daughter will inherit the abnormal gene from her father and be a carrier.
- None of the sons will inherit the abnormal gene from their father, and, therefore, none will have hemophilia.
- Very rarely, a girl is born with hemophilia. This can happen if her father has hemophilia and her mother is a carrier.
SYMPTOMS
- Excessive bleeding
Signs of excessive external bleeding include:
- Bleeding in the mouth from a cut or bite or from cutting or losing a tooth
- Nosebleeds for no obvious reason
- Heavy bleeding from a minor cut
- Bleeding from a cut that resumes after stopping for a short time
Signs of internal bleeding include blood in the urine (from bleeding in the kidneys or bladder) and blood in the stool (from bleeding in the intestines or stomach).
- Bleeding in joint
- Bleeding in the brain
The signs and symptoms of bleeding in the brain include:
- Long-lasting, painful headaches or neck pain or stiffness
- Repeated vomiting
- Sleepiness or changes in behavior
- Sudden weakness or clumsiness of the arms or legs or problems walking
- Double vision
- Convulsions or seizures
DIAGNOSIS
- Take personal and family medical histories
- Will have a physical exam and blood tests to diagnose hemophilia.
Blood tests are used to find out:
- How long it takes for your blood to clot
- Whether your blood has low levels of any of the clotting factors
- Whether one of the clotting factors is completely missing from your blood
The test results will show whether you have hemophilia, what type of hemophilia you have, and how severe it is.
Hemophilia A and B are classified as mild, moderate, or severe, depending on the amount of clotting factor VIII or IX in the blood.
- Mild hemophilia = 5–30 percent of normal clotting factor
- Moderate hemophilia = 1–5 percent of normal clotting factor
- Severe hemophilia = Less than 1 percent of normal clotting factor
TREATMENTS
- Clotting factors concentrate
- Desmopressin (DDAVP)(for mild hemophilia A)
Synthetic hormone which encourages the body to produce more of its own Factor VIII
- RICE (Rest, Ice, Compression, Elevation)
Treatment many health care professionals recommend for joint bleeds
- Administering clotting factor concentrates
Injected into a vein - generally in the back of the hand or at the crook of the elbow
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