Genetic testing for oculocutaneous albinism type 1 and 2 and Hermansky-Pudlak syndrome type 1 and 3 mutations in Puerto Rico.

Hermansky-Pudlak syndrome (HPS) (MIM #203300) is a heterogeneous group of autosomal recessive disorders characterized by oculocutaneous albinism (OCA), bleeding tendency, and lysosomal dysfunction. HPS is very common in Puerto Rico (PR), particularly in the northwest part of the island, with a frequency of approximately 1:1,800. Two HPS genes and mutations have been identified in PR, a 16-base pair (bp) duplication in HPS1 and a 3,904-bp deletion in HPS3.

Financial aspects of haemophilia care in Puerto Rico and other Latin American countries.

The present cost of optimal care in haemophilia is very high. The paradigm of comprehensive care approach, including the essential elements of continuous integrated multidisciplinary health services and the provision of home care with early use of antihaemophilic products requires abundant economic resources that usually are not readily available in nonaffluent countries. A cost-effective comprehensive paediatric haemophilia programme has been operating in Puerto Rico during the last 15 years that provides quality care to over 90% of paediatric haemophiliacs, and is financed mainly by the local government health system.

Characterization of hemoglobin Hotel Dieu in a Puerto Rican adolescent.

Purpose: Hemoglobin Hotel Dieu (HbHD) is a high-oxygen affinity variant of HbA never before reported in a Hispanic patient. This Hb variant was first reported in 1981 by Blouquit et al. in a white person with erythrocytosis with a substitution in the beta 99 aspartic acid residue by glycine.