Identification of Two Rare β-Globin Gene Mutations in a Patient with β-Thalassemia Intermedia from Azerbaijan. (June 2013)

• Record Type: Journal Article
• Authors: Asadov, Chingiz D.; Abdulalimov, Eldar R.; Mammadova, Tahira A.; Qafarova, Surmaya N.; Guliyeva, Yegana J.; Tuli, Abdullah; Çürük, M. Akif
• Is Part Of: Hemoglobin. Volume 37:Number 3(2013)
• Page Start: 291
• Page End: 296
• Publication Date: 2013-06
• Subjects: Hemoglobinopathy -- Periodicals; Hemoglobin -- Periodicals; Hematology -- Periodicals; Thalassemia -- Periodicals; Blood -- Diseases -- Periodicals; 612.1111
• DOI: 10.3109/03630269.2013.774283
• Languages: English
• ISSNs: 0363-0269

Abstract

<abstract> <title> <x xml:space="preserve">Abstract</x> </title> <p>β-Thalassemias are an inherited group of disorders of hemoglobin (Hb) and comprise the most common monogenic disorders in Azerbaijan. They are extremely heterogeneous at the molecular level. Here we report the first identification of a patient who is a compound heterozygote for two rare β-thalassemia (β-thal) mutations, IVS-I-130 (G&gt;C) and codon 37 (TG<italic>G</italic>&gt;TG<italic>A</italic>).</p> </abstract>