Clinical and molecular characterization of Hb Coimbra [HBB: c.300T>A p.(Asp100Glu)] in a three-generation Italian family: From diagnostic pitfalls to vascular risk
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Background: High oxygen-affinity hemoglobin (HOAH) variants are rare causes of familial secondary erythrocytosis. Hb Coimbra [HBB: c.300T>A p.(Asp100Glu)] is a rare variant that can mimic β-thalassemia traits on HPLC, leading to... ...
