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Rh null phenotype in an Indian patient due to a novel c.1138 + 2 t > a mutation in the RHAG gene.

Soumee BanerjeeAnkit MathurNeha HurkatSantanu ChakrabortyT V Reddy
Published in: Transfusion medicine (Oxford, England) (2024)
The novel c.1138+2 t > a mutation in the RHAG gene causing the Rhnull phenotype and development of a pan reacting antibody(ies) made the patient's pregnancy challenging. Confirmation of the diagnosis, an important step in her management, required use of both serological immunohematology and molecular techniques.
Keyphrases
  • case report
  • copy number
  • genome wide
  • genome wide identification
  • dna methylation
  • pregnant women
  • single molecule
  • genome wide analysis