title: Hb Valletta [beta87(F3)Thr-->Pro] and Hb Marseille/Long Island [beta2(NA2)His-->Pro; (-1)Met-(+1)Val-(+2)Pro-Leu], in a unique compound heterozygote with a normal hemoglobin phenotype.
abstract: This study refers to the quantitative hemoglobin (Hb) phenotype of a 19-year-old female with Hb Valletta [beta87(F3)Thr-->Pro] in association with Hb Marseille/Long Island [beta2(NA2)His-->Pro; (-1)Met-(+1)Val-(+2)Pro-Leu] and a normal Hb electrophoretogram. The data serve to alert investigators to the possibility that relatives with apparently normal Hb phenotypes may be transmitting mutant alleles and suggest methods for identification.
authors.affiliation: Laboratory of Molecular Genetics, Department of Physiology and Biochemistry, University of Malta, Msida, Malta. rgald01@um.edu.mt
authors.forename: Ruth
authors.initials: R
authors.lastname: Galdies
authors.forename: Wilhelmina
authors.initials: W
authors.lastname: Cassar
authors.forename: Monica
authors.initials: M
authors.lastname: Pizzuto
authors.forename: Christian A
authors.initials: CA
authors.lastname: Scerri
authors.forename: Nicholas
authors.initials: N
authors.lastname: Felice
authors.forename: Olivianne A
authors.initials: OA
authors.lastname: Cassar
authors.forename: George
authors.initials: G
authors.lastname: Buttigieg
authors.forename: Alex E
authors.initials: AE
authors.lastname: Felice
mesh_terms: D001803:Blood Transfusion; D004739:England / Q000208:ethnology; D005260:Female; D006455:Hemoglobins, Abnormal / Q000235:genetics*; D006470:Hemorrhage / Q000209:etiology / Q000628:therapy; D006579:Heterozygote; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D008319:Malta; D008875:Middle Aged; D010375:Pedigree; D010641:Phenotype; D011247:Pregnancy; D011250:Pregnancy Complications, Hematologic / Q000235:genetics* / Q000628:therapy; D055815:Young Adult; D055544:beta-Globins / Q000235:genetics*
chemical_list: D006455:Hemoglobins, Abnormal; D055544:beta-Globins; C068750:hemoglobin Valletta; C044001:hemoglobin Marseille