Mild to Severe Anemia of Undiagnosed Etiology Diagnosed by Genetic Study | Zendy

Kalliol Bose | Zendy; Md Abu Bakkar Siddique | Zendy; Sudipta Kumar Ghorai | Zendy; Chanchal Kumar Kundu | Zendy; Sudip Saha | Zendy

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Mild to Severe Anemia of Undiagnosed Etiology Diagnosed by Genetic Study

Author(s) -

Kalliol Bose,

Md 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.

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