Hemoglobin O-Padova or _α230(B11)GLU→LYS_β2 Observed in Members of a Turkish Family

Abstract

The testing program of cord blood samples for hemoglobin (Hb) abnormalities, presently conducted in a few centers of Turkish Universities, sometimes detects rare variants which may or may not affect the health of the newborn. One example to be described here is O-Padova which has been observed once before (1). The variant was detected in the blood of a newborn girl by starch gel electrophoresis at pH 9.0 (2); the mobility of the variant (presumably _α2X_γ) was slightly slower than that of Hb C (or α₂β₂6 Glu→Lys) (Fig. 1). Red cell lysates from the father and a 2-year-old brother contained a different Hb component with a mobility distinctly faster than that of Hb A₂ or of Hb C; a minute quantity of a similar component (presumably α₂^X₂) was also present in the cord blood red cell lysate of Baby E (Fig. 1). The baby was retested when 40 days old; her hematological values and those of her father and brother were normal (Table I). Quantitation by cation exchange high performance liquid chromatography (HPLC) (3) gave total Hb X values of 15.4% for the baby (Hb X + Hb F_x), 18.3% for the father (Hb X + Hb X₂), and 12.8% for the brother (Hb X + Hb X₂) (see also Table I).