HAEMOPHILIA: WHAT IT IS, TYPES & CAUSES

Imagine living with a condition where a small cut could cause uncontrolled bleeding and potentially life-threatening complications. For people with haemophilia, this is a daily reality. Hemophilia is a rare bleeding disorder that affects roughly 1 in 5,000 males. The condition is caused by a deficiency or absence of certain clotting factors in the blood. These can lead to prolonged bleeding, both internally and externally.

There are two main types of haemophilia: Hemophilia A and Hemophilia B. These differ in the clotting factor that is affected. Hemophilia A is caused by a deficiency in clotting factor VIII, while Hemophilia B is caused by a deficiency in clotting factor IX. Hemophilia can also be mild, moderate, or severe. This depends on the level of clotting factor present in the blood.

While haemophilia is a genetic condition, not all cases are inherited. About 1/3 of cases occur spontaneously as a result of a new gene mutation. Hemophilia is more commonly diagnosed in males, but females can also be affected if they inherit the gene mutation from both parents.

Fortunately, there are treatment options available to help manage the symptoms of haemophilia and prevent complications. In this blog, we will discuss the types and causes of haemophilia in more detail, as well as the available treatment options for this rare bleeding disorder. To know more, keep reading

Types of haemophilia

Haemophilia is a rare and serious bleeding disorder. This makes it hard for blood to clot. There are three types of haemophilia, and haemophilia A is the most common, while haemophilia C is the rarest and mildest.

Hemophilia A and B are caused by not having enough of certain clotting factors in the blood. Clotting factors are proteins that help the blood clot. This is important to stop bleeding. The severity of haemophilia depends on how much of the clotting factor a person has in their blood.

People with mild haemophilia have 5-40% of the normal amount of clotting factor. They may only experience bleeding after an injury or surgery. Those with severe haemophilia have less than 1% of the normal amount of clotting factor. They may have spontaneous bleeding in their joints or muscles. This can cause damage and pain.

Hemophilia C is caused by not having enough clotting factor XI. It is usually not very serious. Most people don't have any symptoms. It mostly affects people who are of Ashkenazi Jewish descent.

Causes of haemophilia

Hemophilia is caused by changes in genes that affect the way the body makes clotting factors, which help the blood to clot. These changes can happen on their own or be passed down from parents.

Haemophilia is a condition that is more common in males because the genes that cause it are found on the X chromosome, one of the two chromosomes that determine a person's sex.

Since males have only one X chromosome, they are more likely to develop haemophilia than females, who have two X chromosomes. Females may still have the gene mutation, but because they have two X chromosomes, one can usually make up for the other.

Symptoms of haemophilia

The most common symptom of haemophilia is bleeding, both internally and externally.

• Internal bleeding can occur in joints, muscles, and organs. It can cause pain, swelling, and stiffness.

• External bleeding can occur from minor injuries or surgeries. It can lead to prolonged bleeding and bruising.

• Other symptoms of Hemophilia include joint pain, stiffness, and swelling.

Diagnosis of haemophilia

To diagnose haemophilia, a physical examination and medical history review will be conducted.

Blood tests will also be carried out to determine the clotting factors' levels and to confirm a diagnosis.

Coagulation factor tests and genetic tests may be carried out to identify the type of Hemophilia and the specific gene mutation.

Treatment of haemophilia

The treatment of haemophilia focuses on preventing and controlling bleeding. Replacement therapy is the most common treatment. It involves administering clotting factor concentrates through intravenous injection.

Gene therapy is another treatment option. It involves replacing or correcting the defective gene that causes Hemophilia. Other treatments include Desmopressin, Antifibrinolytic medications, and Immune tolerance therapy.

Summary

Haemophilia is a rare genetic disorder. It affects blood clotting. It can lead to serious complications. There are two main types of haemophilia, A and B, each with its unique characteristics and treatment options.

While there is no cure for haemophilia, early diagnosis, and management can help improve the quality of life for those affected.

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