Distinctive population behavior of hereditary metabolic disorders in Holguín province, Cuba
Abstract
Introduction: The observation of intellectual disability associated with parental consanguinity led to the diagnosis of hereditary metabolic disorders since the beginning of medical genetics services in Holguín province.
Objective: To characterize the epidemiological and population behavior of hereditary metabolic disorders in Holguín province.
Method: A case series study of all patients diagnosed between 1985 and 2022, distributed by entities and categories was carried out. Birth prevalence, attributable mortality, consanguinity rate and carrier frequency were calculated. The variables described were the existence of parental consanguinity and the place of origin of the families.
Results: Between 1963 and 2022, 85 patients with hereditary metabolic disorders were born which represented a prevalence of one for every 5033 live births. Lysosomal storage diseases affected 56.5% of patients and were the most predominant categories. Fucosidosis was the entity with the highest prevalence and attributable deaths.
The consanguinity rate was 0.39 and the families of 78.8% of the patients came from the region that belonged to the former jurisdiction of Holguín, at the times of Spanish colonization.
Conclusions: The behavior of hereditary metabolic alterations in Holguín province was different from the behavior reported in other populations of Cuba and the world, due to genetic isolation for socioeconomic reasons and the practice of parental consanguinity.
Keywords: hereditary metabolic disorders; fucosidosis; consanguinityDownloads
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