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?

Sona B Nair; Arundhati S Athalye; Madhavi Panphalia; Firuza R Parikh

doi:10.1080/03630269.2022.2122497

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?

Hemoglobin. 2022 Sep;46(5):269-271. doi: 10.1080/03630269.2022.2122497. Epub 2022 Sep 19.

Authors

Sona B Nair¹, Arundhati S Athalye¹, Madhavi Panphalia¹, Firuza R Parikh¹

Affiliation

¹ Department of Assisted Reproduction and Genetics, Jaslok Hospital and Research Centre, Mumbai, Maharashtra, India.

PMID: 36120956
DOI: 10.1080/03630269.2022.2122497

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.

Keywords: Hb Coombe Park; SERPINC1 gene; antithrombin (AT); α Chain variant.

Publication types

Case Reports

MeSH terms

Antithrombin III / genetics
Genetic Counseling
Hemoglobins, Abnormal* / genetics
Humans
India
Mutation
Thrombosis*

Substances

Antithrombin III
Hemoglobins, Abnormal
SERPINC1 protein, human