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Genetic Mutations in Haemophilia

Genetic mutations in the F8 and F9 genes result in deficient or dysfunctional clotting factors, leading to Haemophilia A and B, respectively.

Easy Bruising

Persistent or Excessive Bleeding

Individuals with Haemophilia bruise easily due to ineffective blood clotting, resulting in visible skin discoloration from minor traumas.

People with Haemophilia experience prolonged bleeding after injury or surgery, often leading to internal bleeding into joints and tissues.

Understanding the Causes of Haemophilia

Joint Pain and Swelling

Haemophilia-related joint pain and swelling occur due to internal bleeding, leading to inflammation and potential long-term joint damage.

Genetic mutations and the role of clotting factors contribute to the development of Haemophilia.

Understanding the key symptoms of Haemophilia including persistent bleeding, easy bruising, and joint pain and swelling.

Symptoms of Haemophilia

A comprehensive overview of symptoms, causes, and treatments

3.

Role of Factor VIII

Inheritance Pattern of Haemophilia

Factor VIII is a crucial clotting protein that is deficient in individuals with Haemophilia A, causing prolonged bleeding episodes and complications.

Haemophilia is typically inherited in an X-linked recessive pattern, meaning the defective gene is located on the X chromosome, leading to a higher incidence in males.

Role of Factor IX

Factor IX is a clotting factor essential for normal blood clotting, and its deficiency leads to Haemophilia B, characterized by similar bleeding symptoms as Haemophilia A.

Genetic Inheritance of Haemophilia

Understanding Haemophilia Syndrome

Haemophilia is inherited in an X-linked recessive pattern, primarily affecting males. Females are usually carriers of the mutated gene. Understanding the genetic inheritance of haemophilia is crucial for diagnosis, treatment, and family counseling.

Blood Tests for Haemophilia

Hemophilia diagnosis typically involves measuring clotting factor levels. A prolonged activated partial thromboplastin time (aPTT) is indicative of Haemophilia A or B. Specific factor assays can determine the deficient factor type.

Types of Haemophilia

Genetic Testing for Haemophilia

There are two primary types of haemophilia: Haemophilia A, caused by a deficiency in Factor VIII, and Haemophilia B, caused by a deficiency in Factor IX. Each type has unique characteristics and treatment approaches.

Genetic testing can identify mutations in the F8 or F9 gene, crucial for diagnosing Haemophilia. This test helps predict disease severity and assess the risk of inheritance for future generations.

Diagnosis and Testing of Haemophilia

Diagnosing Haemophilia involves specialized blood tests and genetic testing to identify clotting factor deficiencies.

Haemophilia is a genetic disorder that impairs the body's ability to clot blood properly. It is classified into two main types: Haemophilia A and Haemophilia B, based on the deficient clotting factor in the blood.

Definition of Haemophilia

Haemophilia is a rare inherited bleeding disorder where blood doesn't clot properly. It is caused by a deficiency in clotting factors, particularly Factor VIII in Haemophilia A and Factor IX in Haemophilia B.

Overview of Haemophilia Syndrome

Treatment Options for Haemophilia

Haemophilia treatment includes replacement therapy, gene therapy, and symptom management to improve patients' quality of life.

Gene Therapy

Replacement Therapy

Replacement therapy involves infusing clotting factors (VIII or IX) to replace the missing factors in individuals with haemophilia.

Gene therapy aims to correct the genetic mutations responsible for haemophilia and enable the body to produce clotting factors independently.

Management of Symptoms

Symptom management strategies focus on preventing bleeding episodes, managing pain, and preserving joint health in individuals with haemophilia.

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