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Sci J Iran Blood Transfus Organ 2014, 10(4): 411-418 |
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Khatami S, Rouhi Dehnabeh S, Najmabadi H. Hemoglobin Q-Iran and the importance of using suitable laboratory screening methods-Case report. Sci J Iran Blood Transfus Organ 2014; 10 (4) :411-418
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URL: http://bloodjournal.ir/article-1-833-en.html
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Hemoglobin Q-Iran and the importance of using
suitable laboratory screening methods-Case report
Khatami Sh.1, Rouhi Dehnabeh S.1, Najmabadi H.2
1Pasteur Institute of Iran, Tehran, Iran
2Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran
Abstract
Background and Objectives
Using suitable laboratory methods for the diagnosis of hemoglobinopathies in laboratories not equipped with automatic systems is essential. The correct diagnosis of hemoglobin Q-Iran (α75Asp → His) is important.
Case
A 33-year-old woman was referred to the national reference globin chain biosynthesis laboratory. The patient's globin chains chromatogram indicated an unknown peak after α globin chain peak. Direct conventional sequencing revealed single G to C missense mutation in the a-globin gene. The genetic analysis led to the identification of a rare hemoglobin variant.
Conclusions
Medical diagnosis laboratories not equipped with modern automatic systems must run solubility test and hemoglobin electrophoresis on citrate agar and cellulose acetate for definite detection of Hb Q-Iran; otherwise, it can be regarded as a cause of misdiagnosis with hemoglobin S.
Key words: hemoglobin Q, Hemoglobinopathies, screening, Iran
Received: 16 Jan 2013
Accepted: 15 Jul 2013
Correspondence: Rouhi Dehnabeh S. DMT. Pasteur Institute of Iran. No. 358, 12th Farwardin Ave, Jomhhoori St., Pasteur St.
Postal Code: 1316943551, Tehran, Iran. Tel: (+9821) 66402770; Fax: (+9821) 66402770
E-mail: rouhisoudabeh@yahoo.com
Full-Text: (2985 Views)
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Case Report
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Sci J Iran Blood Transfus Organ 2014; 10(4): 411-418 |
Hemoglobin Q-Iran and the importance of using
suitable laboratory screening methods-Case report
Khatami Sh.1, Rouhi Dehnabeh S.1, Najmabadi H.2
1Pasteur Institute of Iran, Tehran, Iran
2Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran
Abstract
Background and Objectives
Using suitable laboratory methods for the diagnosis of hemoglobinopathies in laboratories not equipped with automatic systems is essential. The correct diagnosis of hemoglobin Q-Iran (α75Asp → His) is important.
Case
A 33-year-old woman was referred to the national reference globin chain biosynthesis laboratory. The patient's globin chains chromatogram indicated an unknown peak after α globin chain peak. Direct conventional sequencing revealed single G to C missense mutation in the a-globin gene. The genetic analysis led to the identification of a rare hemoglobin variant.
Conclusions
Medical diagnosis laboratories not equipped with modern automatic systems must run solubility test and hemoglobin electrophoresis on citrate agar and cellulose acetate for definite detection of Hb Q-Iran; otherwise, it can be regarded as a cause of misdiagnosis with hemoglobin S.
Key words: hemoglobin Q, Hemoglobinopathies, screening, Iran
Received: 16 Jan 2013
Accepted: 15 Jul 2013
Correspondence: Rouhi Dehnabeh S. DMT. Pasteur Institute of Iran. No. 358, 12th Farwardin Ave, Jomhhoori St., Pasteur St.
Postal Code: 1316943551, Tehran, Iran. Tel: (+9821) 66402770; Fax: (+9821) 66402770
E-mail: rouhisoudabeh@yahoo.com
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