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.

• Authors: Ravindra Kumar, Sweta Mishra, Ram Swaroop Uikey, Anil Gwal, Amol Mun, Praveen K Bharti, Rajasubramaniam Shanmugam
• Journal: Journal of clinical pathology (J Clin Pathol) Vol. 74 Issue 5 Pg. 336-338 (May 2021) ISSN: 1472-4146 [Electronic] England
• PMID: 32817264 (Publication Type: Case Reports, Letter)

Chemical References

• Genetic Markers
• Hemoglobins, Abnormal
• hemoglobin G Waimanalo

Topics

• Anemia, Sickle Cell (diagnosis, genetics)
• Child
• Female
• Genetic Markers
• Genetic Testing
• Hemoglobins, Abnormal (genetics)
• Heterozygote
• Humans
• India
• Indigenous Peoples (genetics)
• Mutation