Unstable Hemoglobin Variants: The Need for Clinical Vigilance in Infants with Congenital Jaundice
2019
AbstractUnstable hemoglobin (Hb) variants are a rare etiology of congenital jaundice caused by hemolytic anemia. For infant patients with jaundice this disorder is often under diagnosed or the last consideration. We report a 14-month-old boy, who presented with a long-standing jaundice. His diagnosis of Hb Sabine [β91(F7)Leu→Pro; HBB: c.275T > C] was not revealed until gene sequencing of the β-globin gene was performed.
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