Case Report
HbS-Sicilian (δβ)0-Thalassemia: A Rare Variant of Sickle Cell
Table 2
Globin gene comprehensive analysis.
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Genetic significance. This patient is compound heterozygous for the missense mutation, c.20A>T, in HBB, and a 13.4 kb deletion that includes the HBB and HBD genes, NG_000007.3:g.64336_77738del13403 (13.4 kb Sicilian –thal deletion). |