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.

Downloads

Download data is not yet available.
Abstract
966
PDF
780

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

Downloads

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

License

Authors who publish with this journal agree to the following terms:

Authors retain copyright and grant the journal right of first publication with the work simultaneously licensed under a Creative Commons Attribution License that allows others to share the work with an acknowledgement of the work's authorship and initial publication in this journal.

Authors are able to enter into separate, additional contractual arrangements for the non-exclusive distribution of the journal's published version of the work (e.g., post it to an institutional repository or publish it in a book), with an acknowledgement of its initial publication in this journal.

Authors are permitted and encouraged to post their work online (e.g., in institutional repositories or on their website) prior to and during the submission process, as it can lead to productive exchanges, as well as earlier and greater citation of published work (See The Effect of Open Access).