Volume 39, number 2 FEBS LETTERS February 1974 Hb J SICILIA: /3 65 (E9) LYS+ASN, A BETA HOMOLOGUE OF Hb ZAMBIA Giuseppe RICCO, Pier Giorgio PICH, Umberto MAZZA, Giacinto ROSSI*, Franc0 AJMAR**, Paolo ARESE* and Eugenio GALLO** zyxwvutsrqponmlkjihgfedcbaZ Department of Special Medical Pathology and Clinical Methodology, University of Turin, Via Genova 3, 10100, Turin, Italy Received 17 September 1973*** 1. Introduction The present paper reports the observation of a new hemoglobin variant in a 2%year-old Sicilian woman living in Genoa. The electrophoresis position (pH 8.6) was typical for Hb J and the name of Hb J Sicilia is proposed for the variant. Its structural formula is (~202 65 (E9) Lys+Asn. This mutation does not result in any difference in function. Hb J Sicilia can be considered as a homologue of Hb Zambia, in which alpha lysine 60 (E9) 1 is replaced by asparagine. The proposita, heterozygous carrier of the abnormal hemoglobin, was also heterozygous for G 6-PD deficiency and displayed slight anemia. No other members of the family were examined. 2. Materials and methods Routine blood studies were run. Hemoglobin elec- trophoresis was determined on cellulose acetate [l]. Red cell survival was evaluated with 51Cr [2]. Chro- matographic separation on a Sephadex DEAE A-50 column [3] was followed by vacuum concentration, incubation with parachloromercuribenzoate (PCMB) [4] and electrophoretic separation of the alpha and beta subunits. Globin obtained by cold precipitation with HCl-acetone from the abnormal fraction was digested with trypsin and fingerprinted [5,6]. Finger- prints were also obtained from the alpha and beta chains, following their separation with urea and fl- mercaptoethanol [7] and amino-ethylation [8]. Each abnormal peptide was eluted with 6 N HCL and hydrolysed at 110°C for 20 hr prior to study in an Optica automatic amino-analyser. In addition, * Marxer s.p.A., Medical Department, 10010, Loranzb d’Ivrea, Turin. ** Hematology Department of the Institute of Internal Medicine, University, Viale Benedetto XV, n.6, 16132, Genoa. * Institute of Biochemistry, University, Via Michelangelo 27, 10126, Turin. ** Institute of Medical Semeiotics of University, Strada San Vito 34, 10133, Turin. *** Delayed due to a technical fault. Fig. 1. Electrophoretic pattern of Hb J Sicilia (right). Cellulose acetate strip, glycine buffer, pH 8.6, ionic strength 0.04. 200 North-Holland Publishing Company - Amsterdam