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
URL:
http://bloodjournal.ir/article-1-833-en.html
Abstract: (10017 Views)
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 -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.
Type of Study:
case report |
Subject:
Hematology Published: 2013/12/21