De novo heterozygous Hb G-Waimanalo (α64(E13)Asp>Asn, CTG>CCG; HBA1:c.193G>A) variant in a sickle cell disease patient of an Indian tribe

J Clin Pathol. 2021 May;74(5):336-338. doi: 10.1136/jclinpath-2020-206589. Epub 2020 Aug 19.

Authors

Ravindra Kumar¹, Sweta Mishra¹, Ram Swaroop Uikey¹, Anil Gwal¹, Amol Mun¹, Praveen K Bharti², Rajasubramaniam Shanmugam³

Affiliations

¹ Genetic Disorders, ICMR-National Institute of Research in Tribal Health, Jabalpur, India.
² Vector Borne Diseases, ICMR-National Institute of Research in Tribal Health, Jabalpur, India.
³ Genetic Disorders, ICMR-National Institute of Research in Tribal Health, Jabalpur, India [email protected].

PMID: 32817264
DOI: 10.1136/jclinpath-2020-206589

No abstract available

Keywords: Anemia, Hemolytic; Anemia, Sickle Cell; Hemoglobin, Sickle; Hemoglobinopathies.

Publication types

Case Reports
Letter

MeSH terms

Anemia, Sickle Cell / diagnosis*
Anemia, Sickle Cell / genetics*
Child
Female
Genetic Markers
Genetic Testing
Hemoglobins, Abnormal / genetics*
Heterozygote
Humans
India
Indigenous Peoples / genetics*
Mutation

Substances

Genetic Markers
Hemoglobins, Abnormal
hemoglobin G Waimanalo