Resumen

CERVERA GARCIA, Ismael; GARCIA HEREDIA, Marisleivis  y  COLLAZO MESA, Teresa. Molecular Study of Sickle Cell Anemia. βS and βC Allele Frequency in Patients Studied in 2010. Medisur [online]. 2012, vol.10, n.5, pp. 365-369. ISSN 1727-897X.

Background: Sickle cell anemia is a genetic disease that is inherited in an autosomal recessive pattern. It occurs associated with episodes of acute pain and progressive damage to various organs. βS allelic variant is the most common cause of sickle cell disease. It is more common in Africans and their descendants. Objective: To determine the frequency of allelic variants βS and βC in 270 DNA samples from fetuses conceived by couples at risk of having children affected with this hemoglobinopathy. Methods: A descriptive study was conducted with 270 fetuses of couples carrying alleles S and / or C, from different provinces of Cuba, whose samples were sent from the Provincial Genetics Centers to the Laboratory of Molecular Biology at the National Center of Medical Genetics. We used the ARMS-PCR and PCR-RFLP methods to detect the presence of alleles βA, βS and βC, the variables of the study. Results: We found that the frequency of the allele variant βS was of 0.38 while βC allelic variant showed a frequency of 0.08, which is consistent with the results obtained by different authors. Disease was diagnosed in 60 fetuses. Conclusions: The mothers whose fetuses were detected with sickle cell disease, received genetic counseling regarding the disease course. They were also offered the option of elective pregnancy termination. In case they did not decide to do it, the possibility of differential and appropriate treatment to child right from birth was offered.

Palabras clave : anemia, sickle cell; diagnosis; alleles; hemoglobinopathies; prenatal diagnosis.

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