Hb riccarton [alpha51(CE9)Gly-->Ser]: a variant arising from a novel mutation in the alpha1 gene.
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.
Brennan
Stephen O
SO
Molecular Pathology Laboratory, Canterbury Health Laboratories, Christchurch, New Zealand. steve.brennan@chmeds.ac.nz
Chan
Tim
T
Obele
Mary
M
George
Peter M
PM
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
D006455:Hemoglobins, Abnormal; C502560:hemoglobin Riccarton; D012694:Serine; D005998:Glycine