Detection of Hemoglobinopathies in Cuban Pregnant Women from the Program: Sickle Cell Anemias in Cuba
<strong>Foundation:</strong> prenatal detection of hemoglobinopathies in Cuba is performed on all pregnant women in Pri-mary Health Care, through hemoglobin electrophoresis to identify high-risk couples. The program provides genetic counseling, molecular prenatal diagnosis and selective...
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Universidad de las Ciencias Médicas de Cienfuegos
2024-01-01
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| Online Access: | https://revfinlay.sld.cu/index.php/finlay/article/view/1313 |
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| author | Yadira Valdés Fraser Tatiana Acosta Sánchez Jacqueline Pérez Rodríguez Beatriz Suárez Besil Sandra Bárbara Correa Jiménez |
| author_facet | Yadira Valdés Fraser Tatiana Acosta Sánchez Jacqueline Pérez Rodríguez Beatriz Suárez Besil Sandra Bárbara Correa Jiménez |
| author_sort | Yadira Valdés Fraser |
| collection | DOAJ |
| description | <strong>Foundation:</strong> prenatal detection of hemoglobinopathies in Cuba is performed on all pregnant women in Pri-mary Health Care, through hemoglobin electrophoresis to identify high-risk couples. The program provides genetic counseling, molecular prenatal diagnosis and selective interruptions of affected fetuses, at the re-quest of couples. <br /><strong>Objective:</strong> determine the type and frequency of hemoglobinopathies in Cuban pregnant women. <br /><strong>Method:</strong> a descriptive, retrospective and cross-sectional study was carried out to determine the type of hemoglobinopathies in 1,342,917 pregnant women recruited over a period of ten years. The research meth-od was hemoglobin electrophoresis in agarose gels at alkaline pH. Confirmation by electrophoresis of hemo-globin in agarose gel at acidic pH, both methods using the Hydrasys 2 equipment. <br /><strong>Results:</strong> the overall frequency of pregnant women with hemoglobinopathies was 3.5 %. Hemoglobinopa-thies were detected in 47,465 women; 38,698 with heterozygous S variant, 8,706 hemoglobin C variants and 158 other variants. 44,283 husbands with hemoglobinopathies were detected, 3,099 high-risk couples were detected, and 2,689 molecular prenatal diagnoses were performed. 522 affected fetuses were confirmed and 382 couples requested termination of pregnancy. The program reached 99.24 % coverage in the country. <br /><strong>Conclusions:</strong> the detection of hemoglobinopathies in pregnant women residing in Cuba allowed us to know the type of hemoglobinopathy and the frequency of abnormal hemoglobins and new variants, hence the in-terest in continuing the research program to prevent the appearance of severe forms of the disease. |
| format | Article |
| id | doaj-art-1dd2eec0c911449dbaad1358301910a4 |
| institution | Kabale University |
| issn | 2221-2434 |
| language | Spanish |
| publishDate | 2024-01-01 |
| publisher | Universidad de las Ciencias Médicas de Cienfuegos |
| record_format | Article |
| series | Revista Finlay |
| spelling | doaj-art-1dd2eec0c911449dbaad1358301910a42025-01-30T21:22:03ZspaUniversidad de las Ciencias Médicas de CienfuegosRevista Finlay2221-24342024-01-01141104109689Detection of Hemoglobinopathies in Cuban Pregnant Women from the Program: Sickle Cell Anemias in CubaYadira Valdés Fraser0Tatiana Acosta Sánchez1Jacqueline Pérez Rodríguez2Beatriz Suárez Besil3Sandra Bárbara Correa Jiménez4Centro Nacional de Genética Médica. La Habana.Centro Nacional de Genética Médica. La Habana.Centro Nacional de Genética Médica. La Habana.Centro Nacional de Genética Médica. La Habana.Centro Nacional de Genética Médica. La Habana.<strong>Foundation:</strong> prenatal detection of hemoglobinopathies in Cuba is performed on all pregnant women in Pri-mary Health Care, through hemoglobin electrophoresis to identify high-risk couples. The program provides genetic counseling, molecular prenatal diagnosis and selective interruptions of affected fetuses, at the re-quest of couples. <br /><strong>Objective:</strong> determine the type and frequency of hemoglobinopathies in Cuban pregnant women. <br /><strong>Method:</strong> a descriptive, retrospective and cross-sectional study was carried out to determine the type of hemoglobinopathies in 1,342,917 pregnant women recruited over a period of ten years. The research meth-od was hemoglobin electrophoresis in agarose gels at alkaline pH. Confirmation by electrophoresis of hemo-globin in agarose gel at acidic pH, both methods using the Hydrasys 2 equipment. <br /><strong>Results:</strong> the overall frequency of pregnant women with hemoglobinopathies was 3.5 %. Hemoglobinopa-thies were detected in 47,465 women; 38,698 with heterozygous S variant, 8,706 hemoglobin C variants and 158 other variants. 44,283 husbands with hemoglobinopathies were detected, 3,099 high-risk couples were detected, and 2,689 molecular prenatal diagnoses were performed. 522 affected fetuses were confirmed and 382 couples requested termination of pregnancy. The program reached 99.24 % coverage in the country. <br /><strong>Conclusions:</strong> the detection of hemoglobinopathies in pregnant women residing in Cuba allowed us to know the type of hemoglobinopathy and the frequency of abnormal hemoglobins and new variants, hence the in-terest in continuing the research program to prevent the appearance of severe forms of the disease.https://revfinlay.sld.cu/index.php/finlay/article/view/1313herenciagenesdiagnóstico prenatal |
| spellingShingle | Yadira Valdés Fraser Tatiana Acosta Sánchez Jacqueline Pérez Rodríguez Beatriz Suárez Besil Sandra Bárbara Correa Jiménez Detection of Hemoglobinopathies in Cuban Pregnant Women from the Program: Sickle Cell Anemias in Cuba Revista Finlay herencia genes diagnóstico prenatal |
| title | Detection of Hemoglobinopathies in Cuban Pregnant Women from the Program: Sickle Cell Anemias in Cuba |
| title_full | Detection of Hemoglobinopathies in Cuban Pregnant Women from the Program: Sickle Cell Anemias in Cuba |
| title_fullStr | Detection of Hemoglobinopathies in Cuban Pregnant Women from the Program: Sickle Cell Anemias in Cuba |
| title_full_unstemmed | Detection of Hemoglobinopathies in Cuban Pregnant Women from the Program: Sickle Cell Anemias in Cuba |
| title_short | Detection of Hemoglobinopathies in Cuban Pregnant Women from the Program: Sickle Cell Anemias in Cuba |
| title_sort | detection of hemoglobinopathies in cuban pregnant women from the program sickle cell anemias in cuba |
| topic | herencia genes diagnóstico prenatal |
| url | https://revfinlay.sld.cu/index.php/finlay/article/view/1313 |
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