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.
Highlights
Beta thalassemia affects child when both parents are carriers
Alpha thalassemia carrier state is not very rare-single gene deletion is detected in 30% African Americans but often they are mistaken as iron deficiency anemia especially if genetic study is not conducted
The mother was a carrier of beta thalassemia but the father had hereditary persistence of fetal hemoglobin (HPFH) yet still their child was having features of thalassemia major
Summary
Beta thalassemia affects child when both parents are carriers. Thalassemia Major or Intermedius is reported in children in whom one parent is a carrier of beta Thalassemia and the other parent has hereditary persistence of fetal haemoglobin due to new mutation. Alpha thalassemia carrier state is not very rare-single gene deletion is detected in 30% African Americans but often they are mistaken as iron deficiency anemia especially if genetic study is not conducted.
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