Cunningham T A, Baker F, Kobrinsky N L, Cepreganova B, Baysal E, Wilson J B, Huisman T H
Royal University Hospital, University of Saskatchewan, Saskatoon, Canada.
Hemoglobin. 1992;16(1-2):19-25. doi: 10.3109/03630269209005672.
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.
