title: Hb Gun Hill: a further de novo observation.
abstract: Here we report the third observation (the second de novo) of unstable Hb Gun Hill or [b91(F7)-95(FG2)Leu-His-Cys-Asp-Lys-->0]. The two-year old male carrier showed low mean corpuscular hemoglobin (MCH) and mean hemoglobim concentration (MCHC), 8.5% fetal hemoglobin and trade mark 30% variant hemoglobin. Mild hemolytic symptoms were detected seven years later. DNA sequencing and functional studies of mRNA and globin chains were performed.
authors.forename: Maria
authors.initials: M
authors.lastname: De Angioletti
authors.forename: Giuseppina
authors.initials: G
authors.lastname: Lacerra
authors.forename: Rosario
authors.initials: R
authors.lastname: Testa
authors.forename: Angela
authors.initials: A
authors.lastname: Flagiello
authors.forename: Gino
authors.initials: G
authors.lastname: Schilirò
authors.forename: Clementina
authors.initials: C
authors.lastname: Carestia
mesh_terms: D002675:Child, Preschool; D006455:Hemoglobins, Abnormal / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D008297:Male; D009154:Mutation; D010375:Pedigree
chemical_list: D006455:Hemoglobins, Abnormal; C048651:hemoglobin Gun Hill