Indian Journal of Pathology and Oncology
Open Access
  • Year: 2014
  • Volume: 1
  • Issue: 1

A rare hemoglobin variant: HB TY gard detected in an Indian family

  • Author:
  • Pratiksha Chheda, Sandeep Warghade, Milind Chanekar, Yogita Salunkhe, Mayur Nigalye, Rajesh Bendre, Sameer Pandya, Nilesh Shah
  • Total Page Count: 4
  • Page Number: 37 to 40

Research & Development, Metropolis Healthcare Ltd., Unit No. 409 to 416, 4th Floor, Commercial Building A, Kohinoor City, Near Kohinoor Mall, Kirol Road, Kurla-W, Mumbai-400 070

*Corresponding Author: E-mail: pratiksha.chheda@metropolisindia.com

Online published on 21 March, 2015.

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.

Keywords

β-globin, β-thalassemia