Mild to Severe Anemia of Undiagnosed Etiology Diagnosed by Genetic Study

Journal of Nepal Paediatric Society

Chanchal Kundu¹  Md Abu Bakkar Siddique¹  Kalliol Bose¹  Sudipta Ghorai¹  Sudip Saha¹ 

[1] Chittaranjan Seva Sadan, Desbandhu Park Sonarpur Kolkata

关键词: alpha thalassemia;    beta thalassemia;    HPFH;    mutation.;   

DOI  :  10.3126/jnps.v36i2.15773

学科分类：儿科学

来源: Nepal Paediatric Society

【 摘 要 】

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.

【 授权许可】

Unknown