title: A novel sickle hemoglobin: hemoglobin S-south end.
abstract: Sickle hemoglobin (Hb S; beta Glu6Val) is due to an A<T transversion in codon 6 of the beta-globin gene. Several Hb S variants have both the Hb S mutation plus another mutation in the same beta-globin gene. Some of these variant hemoglobins can lead to sickle cell disease even in the simple heterozygote. Moreover, some variant hemoglobins mimic Hb A, S, or C on one or several clinical laboratory diagnostic tools, thus making their correct identification potentially problematic. The authors report a novel Hb S variant hemoglobin, Hb S-South End (beta Glu6Val, GAG>GTG; beta Lys132Asn, AAA>AAC). When present alone, the beta Lys132Asn mutation has low oxygen affinity. Therefore, this mutation may enhance the polymerization of the Hb S variant. Furthermore, the variant hemoglobin mimics Hb A on high-pressure liquid chromatography, and its identity is not easily diagnosed. A succinct review of variant sickle hemoglobins is also presented.
authors.affiliation: Hemoglobin Diagnostic Reference Laboratory, Boston Medical Center, Boston, Massachusetts, USA.
authors.forename: Hong-Yuan
authors.initials: HY
authors.lastname: Luo
authors.forename: Adeboye H
authors.initials: AH
authors.lastname: Adewoye
authors.forename: Shawn H
authors.initials: SH
authors.lastname: Eung
authors.forename: Timothy P
authors.initials: TP
authors.lastname: Skelton
authors.forename: Karen
authors.initials: K
authors.lastname: Quillen
authors.forename: Lillian
authors.initials: L
authors.lastname: McMahon
authors.forename: Martin H
authors.initials: MH
authors.lastname: Steinberg
authors.forename: David H K
authors.initials: DH
authors.lastname: Chui
mesh_terms: D000328:Adult; D000755:Anemia, Sickle Cell / Q000175:diagnosis / Q000235:genetics; D002851:Chromatography, High Pressure Liquid; D019281:Dimerization; D005260:Female; D005914:Globins / Q000235:genetics; D006451:Hemoglobin, Sickle / Q000235:genetics* / Q000378:metabolism; D006801:Humans; D020125:Mutation, Missense; D010100:Oxygen / Q000378:metabolism; D017354:Point Mutation
chemical_list: D006451:Hemoglobin, Sickle; C494159:hemoglobin S-south end; D005914:Globins; D010100:Oxygen