Hemoglobin o-padova or α230(b11)GLU→LYSβ2 observed in members of a turkish family

Y. Kilinç, M. Kumi, A. Gurgey, C. Altay, B. B. Webber, J. B. Wilson, A. Kutlar, T. H.J. Huisman

Research output: Contribution to journalArticlepeer-review

4 Scopus citations

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 α2Xγ) 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 α2X2) 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 Fx), 18.3% for the father (Hb X + Hb X2), and 12.8% for the brother (Hb X + Hb X2) (see also Table I).

Original languageEnglish (US)
Pages (from-to)621-625
Number of pages5
JournalHemoglobin
Volume9
Issue number6
DOIs
StatePublished - 1985

ASJC Scopus subject areas

  • Hematology
  • Clinical Biochemistry
  • Genetics(clinical)
  • Biochemistry, medical

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