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A Novel G6PD p. Gly 321 Val Mutation Causing Severe Hemolysis in an Indian Infant

  • R. Devendra
  • P. Warang
  • V. Gupta
  • A. Chiddarwar
  • P. Kedar
  • M. B. Agarwal
  • M. B. Mukherjee
Correspondence
  • 1 Downloads

Dear Editor,

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%).

Hemoglobin analysis on HPLC did not show the presence of hemoglobinopathies (Hb A 2: 2.9%, Hb F: 1.7%). Flow cytometric analysis using eosin-5-maleimide dye suggested the absence of red cell membrane protein defect. Screening for enzymopathies showed the presence of G6PD deficiency (0.3 IU/g Hb, 3.3% of...

Notes

Compliance with Ethical standards

Conflict of interest

The authors declare that they have no conflicts of interest.

Ethical Approval

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

Informed consent was obtained from all the participants included in the study.

References

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Copyright information

© Indian Society of Hematology and Blood Transfusion 2018

Authors and Affiliations

  • R. Devendra
    • 1
  • P. Warang
    • 1
  • V. Gupta
    • 1
  • A. Chiddarwar
    • 1
  • P. Kedar
    • 1
  • M. B. Agarwal
    • 2
  • M. B. Mukherjee
    • 1
  1. 1.Department of HematogeneticsNational Institute of ImmunohematologyMumbaiIndia
  2. 2.Department of HematologyBombay HospitalMumbaiIndia

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