Clinical and Genetic Characteristic of Hemophilia Patients in Pakistan: A Retrospective Study

Background: A clotting factor (VIII/IX) deficiency causes hemophilia, an X-linked recessive congenital bleeding condition. About 80% of instances of hemophilia are caused by hemophilia-A, while 20% are caused by hemophilia-B.

 
Methodology: The study comprised patients who were attending the Hemophilia Patient's Welfare Society (HPWS). The Armed Forces Institute of Pathology (AFIP) and HPWS provided the hemophilic patients' demographic information, laboratory results, assessment of the disease's severity, and course of therapy.

Results: The findings showed that, of the 117 patients, 88.88% had hemophilia A and 11.11% had hemophilia B. The ratio of rural to urban areas was 1.2: 1. In 56.41% of cases, a family history of hemophilia was discovered. According to clinical categorization, 55.55%, 18.18%, and 25.64% of patients had severe, moderate, or mild hemophilia, respectively. Factor concentrates were used to treat about 62% of bleeding events. A single injection was effective in 72% of episodes.

Conclusions: The study's findings, which outline the dangers of consanguinity and offer baseline data on the inheritance of uncommon bleeding disorders, might be useful in developing a public awareness campaign and informing the medical community in particular. Additionally, creating comprehensive clinics for hemophilia care, raising knowledge of the disease's transmission, providing prenatal and postpartum counseling, and treating it.