First Report of an α Chain Variant [Hb Coombe Park (HBA2: c.382A>G)] from India, Coinherited with a Novel SERPINC1 Gene Mutation: A Double Whammy?. (3rd September 2022)

• Record Type: Journal Article
• Authors: Nair, Sona B.; Athalye, Arundhati S.; Panphalia, Madhavi; Parikh, Firuza R.
• Is Part Of: Hemoglobin. Volume 46:Number 5(2022)
• Page Start: 269
• Page End: 271
• Publication Date: 2022-09-03
• Subjects: α Chain variant -- antithrombin (AT) -- Hb Coombe Park -- SERPINC1 gene; Hemoglobinopathy -- Periodicals; Hemoglobin -- Periodicals; Hematology -- Periodicals; Thalassemia -- Periodicals; Blood -- Diseases -- Periodicals; 612.1111
• DOI: 10.1080/03630269.2022.2122497
• Languages: English
• ISSNs: 0363-0269

Abstract

Abstract: Coinheritance of a high oxygen affinity structural hemoglobin (Hb) variant along with a thrombophilia marker is a rare occurrence. This may lead to a multi fold increase in the risk of thrombosis in patients. We report here a first case of Hb Coombe Park ( HBA2 : c.382A>G; p.Lys128Glu) from India, coinherited with a novel mutation (c.839C>G; p.Ser280Ter) on the SERPINC1 gene. This coinheritance has not been reported before. Though the patient is presently asymptomatic, identification of these variants will help in genetic counseling and to decide the future course of action in case of any clinical complications.