Hemoglobin O-Padova orα230(B11)GLU→LYSβ2Observed in Members of a Turkish Family
作者:
KilinçY.,
KumiM.,
GurgeyA.,
AltayÇ.,
WebberB. B.,
WilsonJ. B.,
KutlarA.,
HuismanT. H. J.,
期刊:
Hemoglobin
(Taylor Available online 1985)
卷期:
Volume 9,
issue 6
页码: 621-625
ISSN:0363-0269
年代: 1985
DOI:10.3109/03630268508997044
出版商: Taylor&Francis
数据来源: Taylor
摘要:
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 (presumablyα2Xγ) was slightly slower than that of Hb C (orα2β26 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 A2or of Hb C; a minute quantity of a similar component (presumablyα2X2) 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).
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