Mild to Severe Anemia of Undiagnosed Etiology Diagnosed by Genetic Study

Authors

  • Kalliol Bose Chittaranjan Seva Sadan, Desbandhu Park Sonarpur Kolkata
  • Md Abu Bakkar Siddique Chittaranjan Seva Sadan, Desbandhu Park Sonarpur Kolkata
  • Sudipta Ghorai Chittaranjan Seva Sadan, Desbandhu Park Sonarpur Kolkata
  • Chanchal Kundu Chittaranjan Seva Sadan, Desbandhu Park Sonarpur Kolkata
  • Sudip Saha Chittaranjan Seva Sadan, Desbandhu Park Sonarpur Kolkata

DOI:

https://doi.org/10.3126/jnps.v36i2.15773

Keywords:

alpha thalassemia, beta thalassemia, HPFH, mutation.

Abstract

We report a case of a child with beta thalassemia major, whose mother is a carrier of beta thalassemia and father is having hereditary persistence of fetal hemoglobin. Gene study revealed compound heterozygous for codon 8/9+G and IVS-1-5 G>C point mutation. Another four cases of anemia not responding to iron diagnosed to have alpha thalassemia carrier are also reported here.

J Nepal Paediatr Soc 2016;36(2):213-215.

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Author Biographies

Kalliol Bose, Chittaranjan Seva Sadan, Desbandhu Park Sonarpur Kolkata

Assistant Prof Pediatrics

Md Abu Bakkar Siddique, Chittaranjan Seva Sadan, Desbandhu Park Sonarpur Kolkata

Junior Resident Pediatrics

Sudipta Ghorai, Chittaranjan Seva Sadan, Desbandhu Park Sonarpur Kolkata

Junior Resident Pediatrics

Chanchal Kundu, Chittaranjan Seva Sadan, Desbandhu Park Sonarpur Kolkata

Assistant Prof Pediatrics

Sudip Saha, Chittaranjan Seva Sadan, Desbandhu Park Sonarpur Kolkata

Associate Prof Pediatrics

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Published

2016-12-31

How to Cite

Bose, K., Siddique, M. A. B., Ghorai, S., Kundu, C., & Saha, S. (2016). Mild to Severe Anemia of Undiagnosed Etiology Diagnosed by Genetic Study. Journal of Nepal Paediatric Society, 36(2), 213–215. https://doi.org/10.3126/jnps.v36i2.15773

Issue

Vol. 36 No. 2 (2016)

Section

Case Series

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