title: Hematological and molecular characteristics of Hb Sarrebourg [beta131(H9)Gln-->Arg (CAG-->CGG)] found in a Spanish family.
abstract: We report the hematological and molecular characteristics of Hb Sarrebourg [beta131(H9)Gln-->Arg (CAG-->CGG)] found in nine members of a Spanish family. All the carriers were heterozygous for the variant and hematologically normal. Up to now this hemoglobin (Hb) variant has only been reported once before, in a boy of Turkish origin.
authors.affiliation: Unitat d'Anèmies i Eritropatologia, Hematologia, Laboratoris Clínics, Hospital Universitari Vall d'Hebron, Barcelona, Spain. dbeneite@vhebron.net
authors.forename: David
authors.initials: D
authors.lastname: Beneitez Pastor
authors.forename: Alícia
authors.initials: A
authors.lastname: Carrera
authors.forename: Joan Ramón
authors.initials: JR
authors.lastname: Duran-Suárez
authors.forename: Maria Antonia Durán
authors.initials: MA
authors.lastname: Pastor
authors.forename: Federico Alvarez
authors.initials: FA
authors.lastname: Vinent
authors.forename: Carmen
authors.initials: C
authors.lastname: Melich
mesh_terms: D019943:Amino Acid Substitution; D001216:Asparagine; D005260:Female; D005914:Globins / Q000235:genetics; D005973:Glutamine; D006455:Hemoglobins, Abnormal / Q000235:genetics*; D006801:Humans; D008297:Male; D010375:Pedigree; D020641:Polymorphism, Single Nucleotide; D013030:Spain
chemical_list: D006455:Hemoglobins, Abnormal; C521046:hemoglobin Sarrebourg; D005973:Glutamine; D001216:Asparagine; D005914:Globins