Indian Journal of Pathology and Oncology


A RARE HEMOGLOBIN VARIANT: HB TY GARD DETECTED IN AN INDIAN FAMILY


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Author Details: Pratiksha Chheda, Sandeep Warghade, Milind Chanekar, Yogita Salunkhe, Mayur Nigalye, Rajesh Bendre,

Volume : 1

Issue : 1

Online ISSN : 2394-6792

Print ISSN : 2394-6784

Article First Page : 37

Article End Page : 40


Abstract

We report an Indian family case of Hb Ty Gard. A one year old male child presented with fever and

was found to have low hemoglobin. Variant hemoglobin (Hb) was incidentally detected on HPLC
electrophoresis as an unknown abnormal peak. Molecular analysis of β-globin gene showed presence of codon 124 Pro-Gln (CCA-CAA) variation or Hb Ty Gard. The family studies revealed presence of the same mutation in mother. Mutation analysis of β-globin gene serves as an important tool for confirmation of rare hemoglobinopathies.
 
Key Words: β-globin, β-thalassemia