摘要
在1989年乌鲁木齐市进行的脐带血筛选中,我室又发现了一例异常胎儿血红蛋白(HbF)。理化性质测定证明该变异体为一轻度不稳定Hb。经反相高效液相色谱法(HPLC)等方法测定证明该变异体为HbF-新疆[~Aγ~T25(B7)Gly→Arg]。胡怀钰曾于1986年首次发现该变异体,并命名。与前例比较,本例除分析方法部分不同外,两例先证者的临床症状亦稍有差别。本例的先证者在半岁前患有轻度贫血,而首例先证者未见关于贫血的报道。
A slowly moving fetal hemoglobin (Hb) variant was found in 1989 during a cord blood screening carried out in Urumqi. The propositus was a healthy Han new born male. He was discovered suffering anemia from one to six month old. Electrophoretic bond of the variant on cellulose acetate thin layer (pH) 8. 6 was slightly slower than the HbD group. The variant comprised 14.4% of the total Hb. The content of alkali-resistant Hb was 51%. A heat denaturation test showed that 8.9% (higher than normal) of the Hb was denatured at 50℃ and 2 hours. Heinz body production ratio was 75% and the heat denaturation curves showed that the variant was denatured faster than HbA and HbF. These indicated that the variant was slightly unstable. By mean of DEAE-cellulose chromatography, CM cellulose chromatography, tryptic digestion, reverse phase HPLC, amino acid composition and sequence analysis, this variant was identified as ~A γ~T 25 (B7) Gly→Arg. This γ chain variant was found once in our laboratory by Huaiyu Hu et al in 1986 and was named HbF Xinjiang.
基金
国家自然科学基金
关键词
新生儿
BB
HPLC
溶血性贫血
neonatal screening
gamma chain variant
HPLC
unstable Hb
