Hematological and Molecular Findings in the First Case of Hb J-Norfolk [HBA2: c.173G>A (or HBA1] in an Indian Patient. (2nd November 2018)

• Record Type: Journal Article
• Authors: Nair, Sona B.; Athalye, Arundhati S.; Madon, Prochi F.; Das, Partha Sarathi; Parikh, Firuza R.
• Is Part Of: Hemoglobin. Volume 42:Number 5/6(2018)
• Page Start: 333
• Page End: 335
• Publication Date: 2018-11-02
• Subjects: α Chain variant -- Hb J-Norfolk; Hemoglobinopathy -- Periodicals; Hemoglobin -- Periodicals; Hematology -- Periodicals; Thalassemia -- Periodicals; Blood -- Diseases -- Periodicals; 612.1111
• DOI: 10.1080/03630269.2018.1561462
• Languages: English
• ISSNs: 0363-0269

Abstract

Abstract: We here report a case of a 23-year-old female from Mumbai, Maharashtra, India who was detected to carry the α chain variant Hb J-Norfolk [ HBA2 : c.173G>A (or HBA1 ]. She had no clinical symptoms and was referred to us for routine investigations and screening. An abnormal peak was detected on both high performance liquid chromatography (HPLC) and capillary electrophoresis (CE) with a fast-moving band on cellulose acetate electrophoresis. There is no detailed study on the HPLC and CE pattern of this hemoglobin (Hb) variant, and therefore, this study will help in detecting and avoiding missing these variants during routine investigations and population screening. This is the first report of this variant in the Indian population.