Detection of Rare Beta Globin Gene Mutation [+22 5UTR(G>A)] in an Infant, Despite Prenatal Screening
Background. Beta thalassemia is one of the most common hereditary disorders worldwide. In Iran, it is frequently reported from northern and southern provinces. In order to prevent child birth to be affected by this complication, prenatal screening and diagnosis are carried out nationwide. However, i...
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| Format: | Article |
| Language: | English |
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Wiley
2013-01-01
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| Series: | Case Reports in Hematology |
| Online Access: | http://dx.doi.org/10.1155/2013/906292 |
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| author | Mohammad Reza Mahdavi Hosein Karami Mohammad Taghi Akbari Hosein Jalali Payam Roshan |
| author_facet | Mohammad Reza Mahdavi Hosein Karami Mohammad Taghi Akbari Hosein Jalali Payam Roshan |
| author_sort | Mohammad Reza Mahdavi |
| collection | DOAJ |
| description | Background. Beta thalassemia is one of the most common hereditary disorders worldwide. In Iran, it is frequently reported from northern and southern provinces. In order to prevent child birth to be affected by this complication, prenatal screening and diagnosis are carried out nationwide. However, in some instances, this program is unable to identify rare mutations leading to thalassemia. Case Presentation. A married couple, who took part in prenatal screening and diagnosis, gave birth to a child who is affected by thalassemia major. After several molecular examinations, a rare mutation [+22 5UTR (G>A)] in compound heterozygote state along with a common mutation [codon 8 (-AA)] was found. Conclusion. This case study suggests that more advanced molecular evaluations must be integrated in prenatal screening programs to identify rare mutations and antenatal diagnosis of thalassemia cases. |
| format | Article |
| id | doaj-art-619c13432de847d5b3b16afceda7544e |
| institution | Kabale University |
| issn | 2090-6560 2090-6579 |
| language | English |
| publishDate | 2013-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Hematology |
| spelling | doaj-art-619c13432de847d5b3b16afceda7544e2025-02-03T06:05:11ZengWileyCase Reports in Hematology2090-65602090-65792013-01-01201310.1155/2013/906292906292Detection of Rare Beta Globin Gene Mutation [+22 5UTR(G>A)] in an Infant, Despite Prenatal ScreeningMohammad Reza Mahdavi0Hosein Karami1Mohammad Taghi Akbari2Hosein Jalali3Payam Roshan4Thalassemia Research Center, Mazandaran University of Medical Sciences, Sari, IranThalassemia Research Center, Mazandaran University of Medical Sciences, Sari, IranTarbiat Modares University, Tehran, IranFajr Medical Laboratory, Sari, IranFajr Medical Laboratory, Sari, IranBackground. Beta thalassemia is one of the most common hereditary disorders worldwide. In Iran, it is frequently reported from northern and southern provinces. In order to prevent child birth to be affected by this complication, prenatal screening and diagnosis are carried out nationwide. However, in some instances, this program is unable to identify rare mutations leading to thalassemia. Case Presentation. A married couple, who took part in prenatal screening and diagnosis, gave birth to a child who is affected by thalassemia major. After several molecular examinations, a rare mutation [+22 5UTR (G>A)] in compound heterozygote state along with a common mutation [codon 8 (-AA)] was found. Conclusion. This case study suggests that more advanced molecular evaluations must be integrated in prenatal screening programs to identify rare mutations and antenatal diagnosis of thalassemia cases.http://dx.doi.org/10.1155/2013/906292 |
| spellingShingle | Mohammad Reza Mahdavi Hosein Karami Mohammad Taghi Akbari Hosein Jalali Payam Roshan Detection of Rare Beta Globin Gene Mutation [+22 5UTR(G>A)] in an Infant, Despite Prenatal Screening Case Reports in Hematology |
| title | Detection of Rare Beta Globin Gene Mutation [+22 5UTR(G>A)] in an Infant, Despite Prenatal Screening |
| title_full | Detection of Rare Beta Globin Gene Mutation [+22 5UTR(G>A)] in an Infant, Despite Prenatal Screening |
| title_fullStr | Detection of Rare Beta Globin Gene Mutation [+22 5UTR(G>A)] in an Infant, Despite Prenatal Screening |
| title_full_unstemmed | Detection of Rare Beta Globin Gene Mutation [+22 5UTR(G>A)] in an Infant, Despite Prenatal Screening |
| title_short | Detection of Rare Beta Globin Gene Mutation [+22 5UTR(G>A)] in an Infant, Despite Prenatal Screening |
| title_sort | detection of rare beta globin gene mutation 22 5utr g a in an infant despite prenatal screening |
| url | http://dx.doi.org/10.1155/2013/906292 |
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