title: Hb riccarton [alpha51(CE9)Gly-->Ser]: a variant arising from a novel mutation in the alpha1 gene.
abstract: Hb Riccarton was identified in a young boy under investigation for fatigue and microcytosis. However, the novel alpha51(CE9)Gly-->Ser mutation did not appear to be the cause of the microcytosis as it was also detected in the boy's father who had normal red cell indices.
authors.affiliation: Molecular Pathology Laboratory, Canterbury Health Laboratories, Christchurch, New Zealand. steve.brennan@chmeds.ac.nz
authors.forename: Stephen O
authors.initials: SO
authors.lastname: Brennan
authors.forename: Tim
authors.initials: T
authors.lastname: Chan
authors.forename: Mary
authors.initials: M
authors.lastname: Obele
authors.forename: Peter M
authors.initials: PM
authors.lastname: George
mesh_terms: D019943:Amino Acid Substitution / Q000235:genetics*; D002675:Child, Preschool; D005998:Glycine / Q000235:genetics; D006455:Hemoglobins, Abnormal / Q000235:genetics*; D006801:Humans; D008297:Male; D017354:Point Mutation / Q000235:genetics*; D012694:Serine / Q000235:genetics
chemical_list: D006455:Hemoglobins, Abnormal; C502560:hemoglobin Riccarton; D012694:Serine; D005998:Glycine