Hemoglobin Philly (β35 tyrosine→phenylalanine): studies in the molecular pathology of hemoglobin

Haemoglobin G Norfolk α 85 (F6) Asp → Asn. Structural characterization by sequenator analysis and functional properties of a new variant with high oxygen affinity

“…The thermostability of haemoglobin was studied according to Rieder [3]. The abnormal variant was isolated by column chromatography [4] ; the abnormal (Y chain was separated according to Clegg et al [5], aminoethylated and hydrolysed by trypsin as described elsewhere [6].…”

Hemoglobin Abraham Lincoln, β32 (B14) Leucine → Proline AN UNSTABLE VARIANT PRODUCING SEVERE HEMOLYTIC DISEASE

“…Approximately equal quantities of a-and P-chain globin were recovered. An abnormal globin chain was successfully isolated by application of a pMB precipitation procedure (24,25). A stroma-free lysate of the patient's erythrocytes was allowed to react with pMB under conditions described by Rosemeyer and Huehns (26).…”

Hemoglobin Ty gard (αA2β2 124 (H2) Pro → Gln) a stable high O2 affinity variant at the α1β1 contact

“…Only one other mutation has been described for this residue, Hb Khartoum or cw& 124 (Hz) Pro + Asp but unfortunately without functional studies [S]. Despite the substitution of a Pro at the cur/I, contact HbTG is not unstable and it is noticeable that its physiological consequence is an increase of April 1978 the erythrocyte mass which is at variance with two other or/I1 Hb variants, Hb Tarrant [ 181 and Hb Philly [4] where the increased 0, affinity is accompanied by hemolytic anemia. HbTG is also unique among abnormal Hb at the q,flr contact in that it has a moderately increased O2 affinity (P5e HbTG/PsO HbA = 0.7) normal cooperativity, normal alkaline .Bohr effect and almost normal interactions with anionic effecters.…”