HAEMOPHILIA
Haemophilia is a genetic disorder that affects the body’s ability to clot due to the lack of or low level of certain protein called the clotting factors.
- There are 13 types of clotting factor which works with the platelets to stop bleeding at the site of an injury.
- This means that after an injury, the person bleeds for a longer time than they would if their blood clotted normally.
- Hemophilia can also result in internal bleeding in the knees, ankles, and elbows which can damage organs and tissues, and may have life-threatening complications.
- This bleeding can be seriously devastating if it occurs within the brain as it results in headaches, seizures, or a decreased level of consciousness.
- Hemophilia is more prevalent in male
- According to the World Federation of Haemophilia, about one in 10,000 people are born with this condition.
- There are two main types of hemophilia: hemophilia A and B
- Hemophilia A is the most common type and it occurs as a result of a deficiency in clotting factor VIII
- Hemophilia B occurs as a result of a deficiency in clotting factor IX. It is also called Christmas disease
- Other types are hemophilia which results from a deficiency in clotting factor XI, and parahemophilia that is due to a deficiency in clotting factor V
- In very rare cases, hemophilia can develop after birth and this is called acquired hemophilia. It is associated with cancers, autoimmune disorders, and pregnancy
CAUSES
Haemophilia is an inherited disorder that is caused by a defect in the gene located on the X chromosome that determines how the body makes clotting factors VII, IX, or XI.
Everyone inherits two sex chromosome, one from each parent.
Females inherit two X chromosomes, one from each parent and males have an X chromosome from the mother and Y chromosome from the father.
Because the genetic defect that causes hemophilia is located on the X chromosome, it is passed down from the mother to the son through the mother’s gene
This is to say a male that gets the X chromosome with the altered gene from his mother will have the disorder
Males unlike the females lack a second X chromosome and so are unable to make up for the defective gene
A female that has the altered gene on one of her X chromosomes is a carrier. She doesn’t have the disease herself but may pass it on to her children.
For a female to have the disorder, she must have the altered gene on both of her X chromosomes. However, this is very rare
SYMPTOMS
The level of clotting factors determines the severity of symptoms. They include:
- Many large bruises
- Blood in urine or stools
- Excessive and unexplained bleeding from cuts or injuries, or after surgery or dental work
- Unusual bleeding after vaccinations
- Unusual nosebleed without a known cause
- Pain or swelling around the joint
Symptoms of brain bleeding may include:
- Lethargy
- Paralysis
- Seizures
- Headaches
- Vomiting
- Double vision
- Sudden weakness or clumsiness
DIAGNOSIS AMD TREATMENT
Medical history and blood test are key to diagnosis
On suspicion, the physician will ask about family history and medical history to help with identifying the cause.
A blood test may give information about the level of clotting factors, which clotting factor is missing and the time it takes for the blood to clot
Pregnant women who are carriers may have their fetus tested for the condition after 10 weeks of pregnancy
TREATMENT
The main treatment is replacement therapy. This therapy focuses on receiving a replacement of the specific clotting factor that is missing and is given intravenously.
The treatment can be derived from human blood or synthetically produced in a lab.
Synthetically produced factors are called recombinant clotting factor and are considered the treatment of choice as they reduce the risk of transmitting infection carried in the human being.
Other treatment may include desmopressin, antifibrinolytics, fibrin sealants, and physical therapy.