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  • Title: Molecular characterization of a Chinese pedigree with beta-thalassemia intermedia.
    Author: Huang G, Jiang WL, Rong KB, Li YX, Luo XL, Meng JX, Yu XY.
    Journal: Hemoglobin; 2010 Jan; 34(2):179-83. PubMed ID: 20353356.
    Abstract:
    Hereditary persistence of fetal hemoglobin (HPFH), often associated with mutations in the beta-globin gene cluster, is normally benign, but a person carrying both HPFH and another beta-thalassemia (beta-thal) mutation will develop serious anemia. These people might be erroneously diagnosed as having homozygous beta-thal with common reverse dot-blot methods. Here we report a 5-year old boy with thalassemia intermedia, who is a compound heterozygote for the rare HPFH-6 deletion with codons 41/42 (-TCTT) beta(0)-thal, who inherited the deletion from his mother and the beta(41/42) mutation from his father.
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