Article
A Japanese Family with the Unstable Hb Sydney (HBB: c.203T>C) Variant and Persistent Low Hemoglobin Oxygen Saturation.
Hemoglobin - 1 Jan 2020
Sakamoto Atsushi, Nakadate Hisaya, Tada Kinji, Yamashiro Yasuhiro, Ishiguro Akira
Abstract excerpt
Patients with unstable hemoglobin (Hb), caused by a qualitative abnormality in α- and β-globin genes, are often asymptomatic or mildly symptomatic. It is often difficult to diagnose unstable Hb patients with only mild hemolysis or low oxygen saturation. We herein report a case of a family with an unstable Hb, specifically, Hb Sydney (HBB: c.203T>C), an abnormal β-globin chain. A 5-year-old boy was referred to our...
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