Prevalence and geographic distribution of haemophilia in Costa Rica

Summary

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 100 000 men, for HA it is 6 cases per 100 000 and for HB it is 1 case per 100 000 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.

Keywords

Haemophilia - geographic distribution - spatial analysis - Costa Rica

• References

• 1 Bauder F, Degioanni A, Ducout L. et al. Distribution of haemophilia in the French Basque country. Haemophilia 2002; 08: 735-739.
• 2 Bolton-Maggs P, Pasi K. Haemophilia A and B. Lancet 2003; 361: 1801-1809.
• 3 Bruce L, Evatt M. Demographics of hemophilia in developing countries. Semin Thromb Hemost 2005; 31: 489-494.
• 4 Elliott P, Wartenberg D. Spatial epidemiology: Current approaches and future challenges. Environ Health Perspect 2004; 112: 998-1006.
• 5 Espinoza A. Tendencias y factores de riesgo del VIHSIDA en Costa Rica, 1983 al 2001. Rev Costarric Salud Pública 2006; 15: 35-43.
• 6 Evatt B. The natural evolution of haemophilia care: developing and sustaining comprehensive care globally. Haemophilia 2006; 12 (Suppl. 03) 13-21.
• 7 Evatt B, Robillard L. Establishing haemophilia care in developing countries using data to overcome the barrier of pessimism. Haemophilia 2000; 06: 131-134.
• 8 Guízar J. Genética Clínica: Diagnóstico y manejo de las enfermedades hereditarias. Tercera edición. Editorial El Manual Moderno. México 2001; 351-374.
• 9 Morera B, Barrantes R. Is the Central Valley of Costa Rica a genetic isolate?. Rev Biol Trop 2004; 52: 629-644.
• 10 Jarup L. Health and environment information systems for exposure and disease mapping and risk assessment. Environ Health Perspect 2004; 112: 995-997.
• 11 Nuckols J, Ward M, Jarup L. Using geographic information systems for exposure assessment in environmental epidemiology studies. Environ Health Perspect 2004; 112: 1007-1115.
• 12 Moore D, Carpenter T. Spatial analytical methods and geographic information systems: Use in health research and epidemiology. Epidemiol Rev 1999; 21: 143-.
• 13 Rajiv P. Hemophilia: A practical approach to genetic testing. Mayo Clin Proc 2005; 80: 1485-1499.
• 14 Rezaeian M, Graham D, Leger S, Appleby L. Geographical epidemiology, spatial analysis and geographical information systems: a multidisciplinary glossary. J Epidemiol Community Health 2007; 61: 98-102.
• 15 Rish N, Burchard E, Ziv E, Tang H. Categorization of humans in biomedical research: genes, race and disease. Genome Biology 2002; 07: 1-12.
• 16 Peake I, Lillicrap D, Boulyjenkov V. et al. Hemophilia: Strategies for carrier detection and prenatal diagnosis. Bull World Health Org 1993; 71: 429-458.
• 17 Peyvandi F, Duga S, Akhavan S, Mannucci M. Rare coagulation deficiencies. Haemophilia 2002; 08: 308-321.
• 18 Soucie J, Evatt B, Jackson D. Occurrence of hemophilia in the United States. Am J Hematol 1998; 59: 288-294.
• 19 Kirtava A, Soucie M, Evatt B. et al. National haemophilia programme development in the Republic of Georgia. Haemophilia 2005; 11: 529-534.
• 20 Salazar-Sánchez L, Jiménez-Cruz G, Chaverri P. et al. Molecular diagnosis of hemophilia A and B. Report of five families from Costa Rica. Rev Biol Trop 2004; 52: 1117-1126.
• 21 Meléndez M. Importancia de la genealogía aplicada a estudios genéticos en Costa Rica. Rev Biol Trop 2004; 52: 432-450.