Hemophilia A
Description
Hemophilia A is a rare, inherited bleeding disorder that primarily affects males. It‘s caused by a deficiency in clotting factor VIII, a protein essential for blood clotting. This deficiency can lead to prolonged bleeding, even after minor injuries or surgeries. This blog explores the causes, symptoms, diagnosis, management, and ways to thrive with Hemophilia A.
Genes Involved
Hemophilia A is caused by mutations in the F8 gene, located on the X chromosome. This gene provides instructions for producing factor VIII, a crucial protein for blood clotting. Mutations in the F8 gene can lead to a deficiency in factor VIII, causing the bleeding disorder.
Recognizing the Signs and Symptoms
Recognizing the signs and symptoms of Hemophilia A is crucial for timely diagnosis and treatment. Common signs include:
- Prolonged bleeding: This can occur after minor cuts, scrapes, or dental procedures.
- Spontaneous bleeding: Bleeding episodes may occur without any apparent cause, often in the joints, muscles, or internal organs.
- Large bruises: Even minor bumps can cause significant bruising.
- Joint pain and swelling: Bleeding into joints can cause pain, swelling, and stiffness.
- Blood in urine or stool: Internal bleeding can manifest as blood in the urine or stool.
Causes
Hemophilia A is an inherited bleeding disorder, meaning it is passed down through families. It‘s caused by a mutation in the F8 gene, which is responsible for producing clotting factor VIII. The mutation can be inherited from either parent, although males are more likely to be affected due to their single X chromosome.
Inheritance/recurrence risk
Hemophilia A is an X-linked recessive disorder. This means that the gene responsible for the disorder is located on the X chromosome. Females have two X chromosomes, while males have one X and one Y chromosome. A female carrying the mutated gene on one of her X chromosomes is a carrier and may not show symptoms. However, she can pass the mutated gene to her children. A male who inherits the mutated gene from his mother will have Hemophilia A. The chance of a carrier mother passing the gene to her son is 50%.
