Article
A Clinical Update of the Hb Siirt [β27(B9)Ala→Gly; HBB: c.83C>G] Hemoglobin Variant.
Hemoglobin - 1 Jan 2017
Cappabianca Maria Pia, Colosimo Alessia, Sabatucci Annalaura, Dainese Enrico, Di Biagio Paola, Piscitelli Roberta, Sarra Ofelia, Zei Daniela, Amato Antonio
Abstract excerpt
We report a clinical update of the hemoglobin (Hb) variant [β27(B9)Ala→Gly; HBB: c.83C>G], named Hb Siirt, that was previously described as a silent variant in a 23-year-old Kurdish female. The patient was also a carrier of the codon 5 (-CT) (HBB: c.17_18delCT) frameshift mutation and of the ααα anti 3.7 triplication. Her initial moderate β-thalassemia intermedia (β-TI) phenotype worsened with time, causing the...
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