The unstable Hb Hammersmith or alpha 2 beta 2(42)(CD1)Phe----Ser observed in an Indian child; identification by HPLC and by sequence analysis of amplified DNA.

We have identified the unstable hemoglobin variant present in a Chipewayan Indian patient with severe hemolytic anemia as Hb Hammersmith or alpha 2 beta 2(42)(CD1)Phe----Ser. Her parents were normal. Identification was greatly facilitated by the use of reversed phase high performance liquid chromatography for the isolation of the beta X chain and its tryptic fragments, and of sequence analysis of amplified DNA which readily identified a TTT(Phe)----TCT(Ser) mutation at codon 42.