Prevalence and geographic distribution of haemophilia in Costa Rica

Abstract

Haemophilia is the most frequent hereditary haemorrhagic illness and it is due to the deficiency of coagulation factors VIII (haemophilia A, HA) or IX (haemophilia B, HB). The prevalence of this disease varies according to the country, those having better survival rates having also higher prevalences. Specifically in Costa Rica, there are around 130 HA and 30 HB families. This study reports the prevalence and a spatial distribution analysis of both types of the disease in this country. The prevalence of haemophilia in this country is 7 cases per 100000 men, for HA it is 6 cases per 100000 and for HB it is 1 case per 100000 male inhabitants. The prevalence of this disease is low when compared with other populations. This low prevalence could be due to the many patients that have died because of infection with human immunodeficiency virus during the 1980s. The prevalence of haemophilia in Costa Rica is almost one half of that present in developed countries. Nevertheless, the ratio between HA and HB follows world tendency: 5:1. In this study, nationwide geographical distribution maps were drawn in order to visualize the origin of severe cases and how this influences the pattern of distribution for both types of haemophilia. By means of these maps, it was possible to state that there is no association between the sites of maximum prevalence of mutated alleles and ethnicity. With this study, haemophilia prevalence distribution maps can be used to improve efforts for the establishment of hemophilia clinics or specialized health centers in those areas which hold the highest prevalences in this country. Also, this knowledge can be applied to improve treatment skills and offer the possibility of developing focused genetic counseling for these populations.

Clinical and epidemiological profile of hemophilia in Cuba based on the National Registry of Congenital Coagulopathies. First report

“…19 Others studies in Arab countries and some Latin-Americans regions show even lower mean age. 20,21 In our study, PWH-B presented older mean age than those with HA, results that coincide with others reports. 8 The nding in HB could agree with the statement that HB is a less severe disease phenotypically than HA.…”

Muscle function deterioration in patients with haemophilia: Prospective experience from Costa Rica

“…Our study group included more than one-third of subjects younger than 12 years old, as expected considering the demographics of haemophilic patients in Costa Rica. 24 The young age of our patient group may explain the relative low median value of HJHS despite the lack of adequate replacement therapy. On average, joint health status, as revealed by HJHS, was moderately compromised, reflecting the later onset of prophylaxis if compared with age-matched patient populations who receive regular standard prophylaxis since early childhood the young age of the study group.…”

“…In this study conducted in San José, Costa Rica, we observed that in patients with haemophilia who have limited access to replacement therapy including regular prophylaxis, muscle function deterioration is present despite the progression of structural joint damage and occurs very early in life. As of 2010, 130 patients with haemophilia A and 30 with haemophilia B were known in the country and we were able to examine around 40% of them at least once. Our study group included more than one‐third of subjects younger than 12 years old, as expected considering the demographics of haemophilic patients in Costa Rica .…”

“…As of 2010, 130 patients with haemophilia A and 30 with haemophilia B were known in the country and we were able to examine around 40% of them at least once. Our study group included more than one‐third of subjects younger than 12 years old, as expected considering the demographics of haemophilic patients in Costa Rica . The young age of our patient group may explain the relative low median value of HJHS despite the lack of adequate replacement therapy.…”