First Report of Hb Limassol [β8(A5)Lys→Asn; HBB: c.27G>C] from Odisha, India. (1st November 2016)

• Record Type: Journal Article
• Authors: Meher, Satyabrata; Dehury, Snehadhini; Jana, Arpita; Bhattacharya, Subhra; Patel, Amrita; Das, Kishalaya; Patel, Siris; Sarkar, Biswanath; Mohanty, Pradeep Kumar
• Is Part Of: Hemoglobin. Volume 40:Number 6(2016)
• Page Start: 422
• Page End: 424
• Publication Date: 2016-11-01
• Subjects: Alkaline electrophoresis -- cation exchange high performance liquid chromatography -- DNA sequencing -- Hb Limassol; Hemoglobinopathy -- Periodicals; Hemoglobin -- Periodicals; Hematology -- Periodicals; Thalassemia -- Periodicals; Blood -- Diseases -- Periodicals; 612.1111
• DOI: 10.1080/03630269.2016.1275676
• Languages: English
• ISSNs: 0363-0269

Abstract

Abstract: In this short report, we describe the clinical presentation of a rare hemoglobin (Hb) variant, Hb Limassol [β8(A5)Lys→Asn; HBB : c.27G>C] with a faster electrophoretic mobility than Hb A and that elutes in the P3 window on cation exchange high performance liquid chromatography (HPLC). This sequence variation at codon 8 (AA G >AA C ) of the HBB gene was found in the four heterozygous cases, all of whom were clinically asymptomatic.