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Hereditary factor VIII deficiency Save

ICD-10 code: D66

Disease category: D66: Hereditary factor VIII deficiency

Understanding Hereditary Factor VIII Deficiency

Hereditary Factor VIII Deficiency, also known as Hemophilia A, is a rare genetic bleeding disorder that affects the blood's ability to clot properly. This condition occurs due to a deficiency or malfunction of a clotting protein called factor VIII, which is essential for normal blood clotting.

Individuals with Hereditary Factor VIII Deficiency often experience prolonged bleeding episodes, both internally and externally, even after minor injuries or surgeries. This can lead to significant health complications if not managed appropriately.

Causes:

  1. Genetic Inheritance: Hereditary Factor VIII Deficiency is passed down through families in an X-linked recessive pattern. This means that the faulty gene responsible for the condition is carried on the X chromosome. Males have only one X chromosome, so if they inherit the faulty gene, they will develop the disorder. Females, on the other hand, have two X chromosomes, which allows them to be carriers of the condition without experiencing severe symptoms.
  2. Mutations: In rare cases, Factor VIII Deficiency can also occur due to spontaneous gene mutations. This means that the condition can develop in individuals with no family history of the disorder.

Symptoms:

  • Excessive bleeding from minor cuts or injuries
  • Easy bruising
  • Frequent nosebleeds
  • Prolonged bleeding after dental procedures
  • Joint pain and swelling

Diagnosis:

Hereditary Factor VIII Deficiency can be diagnosed through various tests, including:

  1. Complete blood count (CBC): Measures the number of clotting factors present in the blood.
  2. Factor VIII assay: Determines the level of factor VIII in the blood.
  3. Genetic testing: Identifies specific gene mutations associated with the disorder.

It is important to consult with a healthcare professional if any symptoms or concerns related to Hereditary Factor VIII Deficiency arise. Early diagnosis can help in managing the condition effectively and reducing the risk of complications.

Treatment of Hereditary factor VIII deficiency:

Treatment Options for Hereditary Factor VIII Deficiency

Hereditary Factor VIII Deficiency, also known as Hemophilia A, is a rare genetic disorder that affects the blood's ability to clot properly. It is caused by a deficiency of factor VIII, a clotting protein. While there is no cure for this condition, several treatment options are available to manage and prevent complications.

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