Haemophilia B in Five Nigerian Siblings

Abstract

Aim: To highlight the diagnosis of haemophilia B in 5 Nigerian brothers as well as the diagnostic and management challenges inherent in resource-poor settings. Presentation of Cases: We report the cases of 5 brothers with ages ranging from 2 years to 13 years seen at the paediatric out-patient unit of the Federal Medical Centre Azare, Nigeria. They presented with complaints of abnormal and excessive bleeding since the neonatal period. Bleeding was often provoked by events ranging from traditional uvulectomies, dental exfoliation to circumcisions and was severe enough to require blood transfusions in some instances. Following diagnosis, genetic counseling was offered to the family and plans put in place to commence administration of prophylactic factor IX concentrate. Discussion: The peculiarity in these cases is the large number of affected individuals in one family. This is made more remarkable by the fact that haemophilia B (HB) is extremely rare in Nigeria. The reason for the relative rarity of HB in Nigeria is not known. However, it is recognized that the genetic mutations associated with HB are diversely distributed and often show variations between and across ethnic groups. This may account for the spread and variability in clinical manifestations of the disease.  Conclusion: Haemophilia B though very rare may cluster in individual families. The unavailability, as well as the high cost of coagulation factor concentrates in resource-poor settings remains a significant challenge for physicians and patients alike.