Publication: Mild to Severe Anemia of Undiagnosed Etiology Diagnosed by Genetic Study
Date
2016
Article Type
Case Series
Journal Title
Journal ISSN
ISSN 1990-7974 eISSN 1990-7982
Volume Title
Pages
Pages: 213 - 215
Publisher
Nepal Paediatric Society (JNPS)
Abstract
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.
Description
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
Keywords
alpha thalassemia, beta thalassemia, HPFH, mutation
Identifier
https://doi.org/10.3126/jnps.v36i2.15773