A Novel G6PD p. Gly 321 Val Mutation Causing Severe Hemolysis in an Indian Infant
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An 11-month-old baby boy belonging to the Brahmin community from Bhavnagar district of Gujarat, born in non consanguineous marriages was referred to us with a Hb-7.3 g/dL, reticulocyte count-20.0% and a history of jaundice, sepsis and recurrent blood transfusions. He was given double exchange blood transfusion for treating neonatal jaundice. His C-reactive protein level was high (46.8 mg/L), direct and indirect Coombs tests, osmotic fragility and heat stability tests were negative. The peripheral blood smear showed anisopoikilocytosis, polychromasia, microspherocytes, target cells, tear drop cells, few fragmented cells, adequate platelets with increased eosinophil (8%).
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The authors declare that they have no conflicts of interest.
All procedures performed in studies involving human participants were in accordance with the ethical standards of the institutional and/or national research committee and with the 1964 Helsinki declaration and its later amendments or comparable ethical standards.
Informed consent was obtained from all the participants included in the study.