Genetic Basis and Clinical Features of Hemophilia

Introduction

Hemophilia is an X-linked recessive disorder characterized by a deficiency in clotting factors, leading to excessive bleeding tendencies. It primarily affects males, while females are typically carriers.

Genetic Basis

Hemophilia is caused by mutations in the F8 gene (Hemophilia A) or F9 gene (Hemophilia B), both located on the X chromosome. Since males have only one X chromosome, a single mutation results in disease manifestation.

Clinical Features

• Prolonged bleeding from injuries or surgical procedures
• Spontaneous bleeding into joints and muscles
• Easy bruising
• Intracranial hemorrhages in severe cases

Diagnosis

Hemophilia is diagnosed through clotting factor assays, genetic testing, and family history evaluation.

Treatment

• Replacement therapy with recombinant clotting factors
• Desmopressin for mild Hemophilia A
• Gene therapy research is ongoing

Conclusion

While hemophilia remains a lifelong condition, advances in medical science are improving management and quality of life for patients.