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Immunologic studies were performed in five fathers and nine mothers of patients with Chediak-Higashi Syndrome (CHS). Antibody response to Epstein-Barr virus capsid antigen was higher than in normal controls. Antibodies to diffuse component of the early antigen were not detected and serum antibodies to the restricted component of the early antigen were observed in 64% of the subjects studied. Low natural killer activity and increased proportions of OKT8 positive cells were increased. These data indicate that immunologic alterations similar to those seen in CHS patients can be observed in their asymptomatic parents.

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A mild anemia (hemoglobin 9 g/dl) was found in a patient from Seville (Spain) with marked morphological abnormalities in the peripheral blood smear. The red cell osmotic fragility showed a mild resistance curve with a mean cell fragility (MCF) of 0.375% NaCl (normal = 0.450). Chemical and thermal instability test and search for inclusion bodies gave positive results. Hemoglobin electrophoresis at pH 8.9 revealed absence of Hb A, a major component of fast mobility (94%), and increased Hb F and Hb A₂ levels (1.5% and 4.6%, respectively). The fast fraction, isolated and purified by means of cellulose acetate electrophoresis, precipitated in acid acetone and treated with urea 8 M and mercaptoethanol, revealed an anomalous β chain. Trypsindigested globin peptides were separated by high-voltage electrophoresis at pH 6.4 and ascendant chromatography. With differential staining, an extra peptide was detected in an unusual site, more anodic than αTp4 but in lower position. Peptide map of the fast β chain, stained with ninhydrin, and also for Tyr, confirmed the position of the new peptide and the absence of the usual βTp13. The new peptide, separated by high-voltage electrophoresis at pH 3.5, reveled absence of Val and the presence of an additional Glu residue, which should appear only in position β 126. The diagnosis of Hb Hofu (α₂β₂ 126 Val→Glu; H4) was reached, thus interpreting its increase and the absence of Hb A, as an association with β°-thalassemia, producing a mild hemolytic anemia. Evidence was obtained that Hb Hofu is a mild unstable hemoglobin variant.