Hb Youngstown [β101(G3)Glu → Ala; HBB: c.305A > C]: An Unstable Hemoglobin Variant Causing Severe Hemolytic Anemia

• Published in: Hemoglobin Vol. 38; no. 6; pp. 381 - 384
• Main Authors: Edward, Heather L., Pisani, Louis Almero Du, Rodriguez-Romero, Walter E., Chaves-Villalobos, Jorge, Garcia-Quesada, Jonielle, Harris, Neil S., Luo, Hong-Yuan, Steinberg, Martin H., Forget, Bernard G., Chui, David H.K.
• Format: Journal Article
• Language: English
• Published: England Informa Healthcare USA, Inc 01.12.2014; Taylor & Francis
• Subjects: Adult; Amino Acid Substitution; Anemia, Hemolytic, Congenital - diagnosis; Anemia, Hemolytic, Congenital - genetics; Anemia, Hemolytic, Congenital - pathology; Child; De novo mutation; Female; Hb Youngstown; Hemoglobins, Abnormal - genetics; hemolytic anemia; Humans; Mutation, Missense; Protein Stability; unstable hemoglobin (Hb); Hb Youngstown; unstable hemoglobin (Hb); De novo mutation; hemolytic anemia

Abstract Hb Youngstown is a rare hemoglobin (Hb) variant caused by substitution of glutamic acid with alanine at amino acid residue 101 of the β-globin chain as a result of an A > C transversion on the β-globin gene nucleotide sequences [β101(G3)Glu → Ala; HBB: c.305A > C]. We now report three...