Hb Tigraye [β79(EF3)Asp→His] in a Caucasian family from Sardinia
2001
We describe here the occurrence of the Hb Tigraye, or beta79(EF3)Asp→His, first discovered in a healthy male of Ethiopian descent, in four members of a Sardinian family, two adults and two newborns, providing additional biochemical and molecular data. Sequencing of the beta globin gene showed the presence of the GAC→CAC mutation at the level of codon 79.
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