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Revista de Ciencias Médicas de Pinar del Río

On-line version ISSN 1561-3194

Abstract

GONZALEZ GARCIA, Raúl; MAZA BLANES, Miguel Ángel; OLIVA LOPEZ, Yinet  and  MENENDEZ GARCIA, Reinaldo. Results of the program to prevent hemoglobinopathies SS and SC. Rev Ciencias Médicas [online]. 2013, vol.17, n.4, pp.44-53. ISSN 1561-3194.

Introduction: hemoglobinopathies, among them sickle cell anemia, constitute the most frequent monogenic alterations all over the world, having an autosomal recessive inheritance pattern; showing a high frequency in worldwide population. The Program for the Prevention of Hemoglobinopathies is based on hemoglobin electrophoresis to all pregnant women. Objective: to examine the results of the Program for the Prevention of Hemoglobinopathies in the health areas of Minas de Matahambre municipality. Material and method: a descriptive, retrospective and longitudinal study was carried out to the total of pregnant women recruited from 2005 to 2012, performing hemoglobin electrophoresis, determining the carriers of some abnormal hemoglobin, investigating the couple and these results were presented in tables and graphics. Results: the frequency of hemoglobin SS carriers was 1, 47% where the greatest number belonged to Minas health area 2,1%, followed by Santa Lucia and Sumidero with 1,3% and 0.8% respectively. The frequency of hemoglobin C carriers was 0, 11% and 95,3% of the husbands were studied, only a couple carried the risk, to whom fetal molecular assessment was proposed. Conclusions: the frequency of hemoglobin AS and AC in pregnant women was determined, which will make possible to offer them genetic counseling and fetal molecular assessment to the couples at risk; besides it corroborated the need of improving the education of the population about the disease.

Keywords : Sickle cell anemia; Hemoglobinopathies; Genetic counseling.

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