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- W2023197845 abstract "Molecular characterization of the compound heterozygous condition – <sup>G</sup>γ(<sup>A</sup>γδβ)<sup>o</sup>/β-thalassemia – in four families showing mild β-thalassemia intermedia was carried out using DNA amplification techniques. Using the Amplification Refractory Mutation System (ARMS) to confirm the β-mutations and DNA amplification to detect the 100-kb Chinese-specific <sup>G</sup>γ(<sup>A</sup>γδβ)<sup>o</sup>-deletion, <sup></sup>two families were confirmed to possess <sup>G</sup>γ(<sup>A</sup>γδβ)<sup>o</sup>/β-thalassemia with the IVSII No. 654 β<sup>+</sup>-allele. In the third family, the <sup>G</sup>γ(<sup>A</sup>γδβ)<sup>o</sup>-deletion was confirmed in the father and the mother was a β-thalassemia carrier with the cd 41–42 β<sup>o</sup>-allele. Their affected child with <sup>G</sup>γ(<sup>A</sup>γδβ)<sup>o</sup>/β-thalassemia was found to be transfusion dependent. The same <sup>G</sup>γ(<sup>A</sup>γδβ)<sup>o</sup>-deletion and β-thalassemia (cd 41–42) was also confirmed in a fourth family. In addition, the mother was also diagnosed with Hb H disease (genotype -α<sup>3.7</sup>/–<sup>SEA</sup>). Both the children were found to possess <sup>G</sup>γ(<sup>A</sup>γδβ)<sup>o</sup>/β-thalassemia but they were not transfusion dependent and this could be due to co-inheritance of α-thalassemia-2 (genotype-α<sup>3.7</sup>/αα) in the children together with their compound heterozygous condition." @default.
- W2023197845 created "2016-06-24" @default.
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- W2023197845 date "2003-01-01" @default.
- W2023197845 modified "2023-10-16" @default.
- W2023197845 title "Mild Beta-Thalassemia intermedia Caused by Compound Heterozygosity for <sup>G</sup>γ(<sup>A</sup>γδβ)<sup>o</sup>/β-Thalassemia and Molecular Characterization of the Defect in Four Chinese Families" @default.
- W2023197845 cites W1990946747 @default.
- W2023197845 cites W2013647501 @default.
- W2023197845 doi "https://doi.org/10.1159/000070965" @default.
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