title: First Report of Hb Limassol [β8(A5)Lys→Asn; HBB: c.27G>C] from Odisha, India.
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 (AAG>AAC) of the HBB gene was found in the four heterozygous cases, all of whom were clinically asymptomatic.
authors.affiliation: a Odisha Sickle Cell Project , National Health Mission (NHM), Veer Surendra Sai Institute of Medical Science and Research (VIMSAR) , Sambalpur, Odisha , India.
authors.forename: Satyabrata
authors.initials: S
authors.lastname: Meher
authors.affiliation: a Odisha Sickle Cell Project , National Health Mission (NHM), Veer Surendra Sai Institute of Medical Science and Research (VIMSAR) , Sambalpur, Odisha , India.
authors.forename: Snehadhini
authors.initials: S
authors.lastname: Dehury
authors.affiliation: b DNA Laboratory , Anthropological Survey of India , Kolkata, West Bengal , India.
authors.forename: Arpita
authors.initials: A
authors.lastname: Jana
authors.affiliation: b DNA Laboratory , Anthropological Survey of India , Kolkata, West Bengal , India.
authors.forename: Subhra
authors.initials: S
authors.lastname: Bhattacharya
authors.affiliation: c Sickle Cell Unit, Odisha Sickle Cell Project , National Health Mission (NHM), District Headquarters Hospital , Jharsuguda, Odisha , India.
authors.forename: Amrita
authors.initials: A
authors.lastname: Patel
authors.affiliation: a Odisha Sickle Cell Project , National Health Mission (NHM), Veer Surendra Sai Institute of Medical Science and Research (VIMSAR) , Sambalpur, Odisha , India.
authors.forename: Kishalaya
authors.initials: K
authors.lastname: Das
authors.affiliation: a Odisha Sickle Cell Project , National Health Mission (NHM), Veer Surendra Sai Institute of Medical Science and Research (VIMSAR) , Sambalpur, Odisha , India.
authors.forename: Siris
authors.initials: S
authors.lastname: Patel
authors.affiliation: b DNA Laboratory , Anthropological Survey of India , Kolkata, West Bengal , India.
authors.forename: Biswanath
authors.initials: B
authors.lastname: Sarkar
authors.affiliation: d Department of Medicine, Odisha Sickle Cell Project , National Health Mission (NHM), Veer Surendra Sai Institute of Medical Science and Research (VIMSAR) , Sambalpur, Odisha , India.
authors.forename: Pradeep Kumar
authors.initials: PK
authors.lastname: Mohanty
mesh_terms: D019943:Amino Acid Substitution; D002851:Chromatography, High Pressure Liquid; D003062:Codon; D004586:Electrophoresis; D005260:Female; D014644:Genetic Variation; D006455:Hemoglobins, Abnormal / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D007194:India; D008297:Male; D010375:Pedigree; D055544:beta-Globins / Q000235:genetics*
chemical_list: D003062:Codon; D006455:Hemoglobins, Abnormal; D055544:beta-Globins; C473011:hemoglobin Limassol
keywords: Alkaline electrophoresis; DNA sequencing; Hb Limassol; cation exchange high performance liquid chromatography