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Difficulties in the diagnosis of Hb S/Beta thalassemia: Really a mild disease?
Uçucu, Süheyl; Karabıyık, Talha; Azık, Fatih Mehmet (SOC MEDICAL BIOCHEMISTS SERBIA, 2022)Background: HbS/beta cases having clinical, hematologic and electrophoretic similarities cannot be sufficiently distinguished from sickle cell anemia cases and are misdiagnosed as sickle cell anemia. This study will ... -
IVS-II-16 (G>C) (HBB: c.315+16G>C) or IVS-II-666 (C>T) (HBB: c.316-185C>T) Mutations Trigger an Hb S (HBB: c.20A>T)/β+-Thalassemia Phenotype in an Hb S Trait Patient
Uçucu, Süheyl; Karabıyık, Talha; Azık, Fatih Mehmet (Taylor and Francis Ltd., 2021)Sickle cell trait is a medical condition caused by the presence of both mutant Hb S (HBB: c.20A>T) and normal Hb A alleles. Although sickle cell trait is typically considered to be asymptomatic and benign, genetic modifiers ...