Open AccessMild to Severe Anemia of Undiagnosed Etiology Diagnosed by Genetic Study
Author(s) -
Kalliol Bose,
Abu Bakkar Siddique,
Sudipta Kumar Ghorai,
Chanchal Kumar Kundu,
Sudip Saha
Publication year - 2016
Publication title -
journal of nepal paediatric society
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.13
H-Index - 8
eISSN - 1990-7982
pISSN - 1990-7974
DOI - 10.3126/jnps.v36i2.15773
Subject(s) - medicine , etiology , thalassemia , pediatrics , anemia , beta thalassemia , fetal hemoglobin , persistence (discontinuity) , hemoglobin , fetus , genetics , pregnancy , geotechnical engineering , biology , engineering
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.