Determination of the Need for Prenatal Diagnosis in Carriers of Alpha Thalassemia
Background: In recent years, both alpha and beta thalassemia have been screened in couples before marriage. The severe form of alpha thalassemia, i.e. hydrops fetalis, is found in fetuses and causes fetal death. We tried to determine the need for prenatal diagnosis of hydrops fetalis among couples r...
| Main Authors: | , , , |
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| Format: | Article |
| Language: | fas |
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Isfahan University of Medical Sciences
2013-02-01
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| Series: | مجله دانشکده پزشکی اصفهان |
| Online Access: | http://jims.mui.ac.ir/index.php/jims/article/view/2283 |
| _version_ | 1797762260075020288 |
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| author | Mitra Ramezani Yadollah Ramezani Davood Amirian Mansoor Salehi |
| author_facet | Mitra Ramezani Yadollah Ramezani Davood Amirian Mansoor Salehi |
| author_sort | Mitra Ramezani |
| collection | DOAJ |
| description | Background: In recent years, both alpha and beta thalassemia have been screened in couples before marriage. The severe form of alpha thalassemia, i.e. hydrops fetalis, is found in fetuses and causes fetal death. We tried to determine the need for prenatal diagnosis of hydrops fetalis among couples referred to Alzahra Genetic Laboratory. We also evaluated the cost-effectiveness of alpha thalassemia screening.
Methods: This descriptive study included all individuals that had been referred to the genetic laboratory from various health centers in Isfahan (Iran). The subjects had mean corpuscular volume less than 80 fL, mean corpuscular hemoglobin less than 27 pg, and hemoglobin A2 less than 2.5 percent. Moreover, one month of iron supplementation had failed to normalize their blood indexes. DNA was duplicated with polymerase chain reaction and examined with gel electrophoresis.
Findings: During the 27 months and nine days of the study (2009-2012), 642 eligible couples were referred to Alzahra Genetic Laboratory. Of these, 75 couples (11.6%) had beta-beta genotype, 343 couples (53.4%) had alpha-alpha genotype, and 224 couples (34.8%) had genotype alpha-beta. Of the 343 couples who had alpha-alpha genotype, three couples (0.87%) required to have prenatal diagnosis.
Conclusion: Considering the very few fetuses that required prenatal diagnosis, the cost-effectiveness of alpha-thalassemia screening in preparing couples for marriage has to be further evaluated at the country level. On the other hand, as fetuses with hydrops will not survive and will abort (only one fetus had hydrops in this study), children with thalassemia major will not be a problem.
Keywords: Alpha thalassemia, Prenatal diagnosis |
| first_indexed | 2024-03-12T19:24:46Z |
| format | Article |
| id | doaj.art-6416b9eab5a942f3983a9f8cbbf6e90d |
| institution | Directory Open Access Journal |
| issn | 1027-7595 1735-854X |
| language | fas |
| last_indexed | 2024-03-12T19:24:46Z |
| publishDate | 2013-02-01 |
| publisher | Isfahan University of Medical Sciences |
| record_format | Article |
| series | مجله دانشکده پزشکی اصفهان |
| spelling | doaj.art-6416b9eab5a942f3983a9f8cbbf6e90d2023-08-02T04:56:04ZfasIsfahan University of Medical Sciencesمجله دانشکده پزشکی اصفهان1027-75951735-854X2013-02-0130219234423521243Determination of the Need for Prenatal Diagnosis in Carriers of Alpha ThalassemiaMitra Ramezani0Yadollah Ramezani1Davood Amirian2Mansoor Salehi3Student of Medicine, School of Medicine AND Student Research Committee, Isfahan University of Medical Sciences, Isfahan, IranInstructor, Department of Health, School of Health, Kashan University of Medical Sciences, Kashan, IranResident, Department of Orthopedic Surgery, School of Medicine AND Student Research Committee, Isfahan University of Medical Sciences, Isfahan, IranAssociate Professor, Department of Anatomical Sciences, School of Medicine, Isfahan University of Medical Sciences, Isfahan, IranBackground: In recent years, both alpha and beta thalassemia have been screened in couples before marriage. The severe form of alpha thalassemia, i.e. hydrops fetalis, is found in fetuses and causes fetal death. We tried to determine the need for prenatal diagnosis of hydrops fetalis among couples referred to Alzahra Genetic Laboratory. We also evaluated the cost-effectiveness of alpha thalassemia screening. Methods: This descriptive study included all individuals that had been referred to the genetic laboratory from various health centers in Isfahan (Iran). The subjects had mean corpuscular volume less than 80 fL, mean corpuscular hemoglobin less than 27 pg, and hemoglobin A2 less than 2.5 percent. Moreover, one month of iron supplementation had failed to normalize their blood indexes. DNA was duplicated with polymerase chain reaction and examined with gel electrophoresis. Findings: During the 27 months and nine days of the study (2009-2012), 642 eligible couples were referred to Alzahra Genetic Laboratory. Of these, 75 couples (11.6%) had beta-beta genotype, 343 couples (53.4%) had alpha-alpha genotype, and 224 couples (34.8%) had genotype alpha-beta. Of the 343 couples who had alpha-alpha genotype, three couples (0.87%) required to have prenatal diagnosis. Conclusion: Considering the very few fetuses that required prenatal diagnosis, the cost-effectiveness of alpha-thalassemia screening in preparing couples for marriage has to be further evaluated at the country level. On the other hand, as fetuses with hydrops will not survive and will abort (only one fetus had hydrops in this study), children with thalassemia major will not be a problem. Keywords: Alpha thalassemia, Prenatal diagnosishttp://jims.mui.ac.ir/index.php/jims/article/view/2283 |
| spellingShingle | Mitra Ramezani Yadollah Ramezani Davood Amirian Mansoor Salehi Determination of the Need for Prenatal Diagnosis in Carriers of Alpha Thalassemia مجله دانشکده پزشکی اصفهان |
| title | Determination of the Need for Prenatal Diagnosis in Carriers of Alpha Thalassemia |
| title_full | Determination of the Need for Prenatal Diagnosis in Carriers of Alpha Thalassemia |
| title_fullStr | Determination of the Need for Prenatal Diagnosis in Carriers of Alpha Thalassemia |
| title_full_unstemmed | Determination of the Need for Prenatal Diagnosis in Carriers of Alpha Thalassemia |
| title_short | Determination of the Need for Prenatal Diagnosis in Carriers of Alpha Thalassemia |
| title_sort | determination of the need for prenatal diagnosis in carriers of alpha thalassemia |
| url | http://jims.mui.ac.ir/index.php/jims/article/view/2283 |
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