Hb Riccarton [α51(CE9)Gly→Ser]: A Variant Arising from a Novel Mutation in the α1 Gene

Abstract

Hb Riccarton was identified in a young boy under investigation for fatigue and microcytosis. However, the novel α51(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.

• Electrospray ionization mass spectrometry (ESI MS)
• Novel mutation
• α1 gene