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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| Main Authors: | , , , , |
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| Format: | Article |
| Language: | Spanish |
| Published: |
Universidad de las Ciencias Médicas de Cienfuegos
2024-01-01
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| Series: | Revista Finlay |
| Subjects: | |
| Online Access: | https://revfinlay.sld.cu/index.php/finlay/article/view/1313 |
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| Summary: | <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. |
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| ISSN: | 2221-2434 |