title: Hb Tianshui (HBB: C.119A > G) in Compound Heterozygosity with Hb S (HBB: C.20A > T) from Odisha, India.
abstract: We describe here a rare β-globin gene variant, Hb Tianshui [β39(C5)Glu→Arg; HBB: c.119A > G], detected during routine screening in Odisha, India. This is the second report of Hb Tianshui and the first to describe the cation exchange high performance liquid chromatography (HPLC) and DNA studies of two cases of this variant. Both cases had coinherited Hb S (HBB: c.20A > T) but none presented with typical symptoms of sickle cell disease. One of the cases was heterozygous for a common α-thalassemia (α-thal) allele (-α(3.7)) (rightward) (NG_000006.1: g.34164_37967del3804) and marginally raised Hb F percentage, while the other Hb S/Hb Tianshui case was completely benign and healthy. An atypical Asian Indian haplotype [+ - + - +] could be assigned to the Hb Tianshui variant. Hb Tianshui seems to mimic a few other Hb variants in cation exchange HPLC. However, we report two specific patterns in the chromatograms that are characteristic to Hb Tianshui. Combining an alkaline electrophoresis result with cation exchange HPLC at screening would be preferred to detect this rare variant, especially in regions with considerable frequency of Hb E [β26(B8)Glu→Lys; HBB: c.79G > A] or Hb S.
authors.affiliation: a Odisha Sickle Cell Project, National Health Mission (NHM), Veer Surendra Sai Institute of Medical Science & Research (VIMSAR) , Burla , 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 & Research (VIMSAR) , Burla , Sambalpur , Odisha , India .
authors.forename: Snehadhini
authors.initials: S
authors.lastname: Dehury
authors.affiliation: b Department of Medicine and Project Coordinator , Odisha Sickle Cell Project, NHM, VIMSAR , Burla , Sambalpur , Odisha , India .
authors.forename: Pradeep Kumar
authors.initials: PK
authors.lastname: Mohanty
authors.affiliation: a Odisha Sickle Cell Project, National Health Mission (NHM), Veer Surendra Sai Institute of Medical Science & Research (VIMSAR) , Burla , Sambalpur , Odisha , India .
authors.forename: Siris
authors.initials: S
authors.lastname: Patel
authors.affiliation: c Odisha Sickle Cell Project, NHM, District Headquarters Hospital , Deogarh , Odisha , India .
authors.forename: Chinmayee
authors.initials: C
authors.lastname: Pattanayak
authors.affiliation: d Anthropological Survey of India , Kolkata , West Bengal , India.
authors.forename: Subhra
authors.initials: S
authors.lastname: Bhattacharya
authors.affiliation: a Odisha Sickle Cell Project, National Health Mission (NHM), Veer Surendra Sai Institute of Medical Science & Research (VIMSAR) , Burla , Sambalpur , Odisha , India .
authors.forename: Kishalaya
authors.initials: K
authors.lastname: Das
authors.affiliation: d Anthropological Survey of India , Kolkata , West Bengal , India.
authors.forename: Biswanath
authors.initials: B
authors.lastname: Sarkar
mesh_terms: D002851:Chromatography, High Pressure Liquid; D002852:Chromatography, Ion Exchange; D004586:Electrophoresis; D006451:Hemoglobin, Sickle / Q000235:genetics*; D006453:Hemoglobinopathies / Q000175:diagnosis*; D006455:Hemoglobins, Abnormal / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D007194:India; D017085:alpha-Thalassemia
chemical_list: D006451:Hemoglobin, Sickle; D006455:Hemoglobins, Abnormal; C067967:hemoglobin Tianshui
keywords: Cation exchange high performance liquid chromatography; Hb Tianshui; direct HBB gene sequencing; haplotype; sickle cell disease