Detection of Rare Beta Globin Gene Mutation [+22 5UTR(G>A)] in an Infant, Despite Prenatal Screening
Joint Authors
Roshan, Payam
Jalali, Hosein
Karami, Hosein
Mahdavi, Mohammad Reza
Akbari, Mohammad Taghi
Source
Issue
Vol. 2013, Issue 2013 (31 Dec. 2013), pp.1-3, 3 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2013-04-14
Country of Publication
Egypt
No. of Pages
3
Main Subjects
Abstract EN
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.
American Psychological Association (APA)
Mahdavi, Mohammad Reza& Karami, Hosein& Akbari, Mohammad Taghi& Jalali, Hosein& Roshan, Payam. 2013. Detection of Rare Beta Globin Gene Mutation [+22 5UTR(G>A)] in an Infant, Despite Prenatal Screening. Case Reports in Hematology،Vol. 2013, no. 2013, pp.1-3.
https://search.emarefa.net/detail/BIM-507000
Modern Language Association (MLA)
Mahdavi, Mohammad Reza…[et al.]. Detection of Rare Beta Globin Gene Mutation [+22 5UTR(G>A)] in an Infant, Despite Prenatal Screening. Case Reports in Hematology No. 2013 (2013), pp.1-3.
https://search.emarefa.net/detail/BIM-507000
American Medical Association (AMA)
Mahdavi, Mohammad Reza& Karami, Hosein& Akbari, Mohammad Taghi& Jalali, Hosein& Roshan, Payam. Detection of Rare Beta Globin Gene Mutation [+22 5UTR(G>A)] in an Infant, Despite Prenatal Screening. Case Reports in Hematology. 2013. Vol. 2013, no. 2013, pp.1-3.
https://search.emarefa.net/detail/BIM-507000
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-507000