Haemoglobin Osu-Christiansborg: a new beta-chain variant of haemoglobin A ( beta52 (D3) aspartic acid leads to asparagine) in combination with haemoglobin S.

Abstract

A 63-year-old man, a member of the Ga tribe from the Osu-Christiansborg area in Accra was exa- mined for hypertension.On incubation with 2% sodium metabisulphate his red cells readily sickle.Only two haemoglobin bands were demonstrated by paper electrophoresis at pH 8-9 (Cradock-Watson, Fenton, and Lehmann, 1959) and starch gel electrophoresis atpH 8-6 (Poulik, 1957), a minor one corresponding to haemoglobin A2 in normal con- centrations and a major one in the position of haemoglobin S (Fig. 1).The finding of a single haemoglobin band in the position of haemoglobin S would suggest sickle-cell anaemia.The man was not anaemic, his haemoglobin level was 13-8 g/100 ml and the haematocrit was 42-9%, and there was no jaundice.The man did however remember in his twenties having bone pains of sufficient severity to wake him at night and pains in his thighs on running; these pains have not recurred.The only abnormal findings were an arcus senilis and blood pressure of 200/120 mm with an occasional ectopic heart beat and bilateral perception deafness of un- certain cause, as had his father. Laboratory InvestigationsThe solubility test of Itano (1953), was compatible with the sickle-cell trait rather than sickle-cell anaemia, suggesting that two haemoglobins were present, and that the proportion of the non-sickling haemoglobin was like that of haemoglobin A in a sickle-cell trait carrier.On agar gel electrophoresis at pH 6-0 (Robinson et al, 1957), two haemoglobins separated, one in the position of haemoglobin S and one in the position where haemo- globin A or D are found (Fig. 2).After staining and drying the agar gel, the two fractions were measured on a