title: Hereditary Persistence of Fetal Hemoglobin Caused by Single Nucleotide Promoter Mutations in Sickle Cell Trait and Hb SC Disease.
abstract: Hereditary persistence of fetal hemoglobin (HPFH) can be caused by point mutations in the γ-globin gene promoters. We report three rare cases: a child compound heterozygous for Hb S (HBB: c.20A > T) and HPFH with a novel point mutation in the (A)γ-globin gene promoter who had 42.0% Hb S, 17.0% Hb A and 38.0% Hb F; a man with Hb SC (HBB: c.19G > A) disease and a point mutation in the (G)γ-globin gene promoter who had 54.0% Hb S, 18.0% Hb C and 25.0% Hb F; a child heterozygous for Hb S and HPFH due to mutations in both the (A)γ- and (G)γ-globin gene promoters in cis [(G)γ(A)γ(β(+)) HPFH], with 67.0% Hb A, 6.5% Hb S and 25.0% Hb F.
authors.affiliation: a Department of Medicine , Boston University School of Medicine , Boston , Massachusetts , USA.
authors.forename: Anthony O
authors.initials: AO
authors.lastname: Akinbami
authors.affiliation: b Department of Pediatrics , University of Michigan , Ann Arbor , Michigan , USA.
authors.forename: Andrew D
authors.initials: AD
authors.lastname: Campbell
authors.affiliation: c Quest Diagnostics Nichols Institute , Chantilly , Virginia , USA.
authors.forename: Zeqiu J
authors.initials: ZJ
authors.lastname: Han
authors.affiliation: a Department of Medicine , Boston University School of Medicine , Boston , Massachusetts , USA.
authors.forename: Hong-Yuan
authors.initials: HY
authors.lastname: Luo
authors.affiliation: a Department of Medicine , Boston University School of Medicine , Boston , Massachusetts , USA.
authors.forename: David H K
authors.initials: DH
authors.lastname: Chui
authors.affiliation: a Department of Medicine , Boston University School of Medicine , Boston , Massachusetts , USA.
authors.forename: Martin H
authors.initials: MH
authors.lastname: Steinberg
mesh_terms: D000328:Adult; D005260:Female; D005319:Fetal Hemoglobin / Q000235:genetics*; D006444:Hemoglobin C / Q000235:genetics; D006450:Hemoglobin SC Disease / Q000235:genetics*; D006451:Hemoglobin, Sickle / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D007223:Infant; D008297:Male; D017354:Point Mutation; D011401:Promoter Regions, Genetic; D012805:Sickle Cell Trait / Q000235:genetics*; D055545:gamma-Globins / Q000235:genetics*
chemical_list: D006451:Hemoglobin, Sickle; D055545:gamma-Globins; D006444:Hemoglobin C; D005319:Fetal Hemoglobin
keywords: Globin gene expression; Hb F; globin genes; sickle cell trait