【摘要】 应用高效液相层析法和微晶纤维素薄层指纹图谱法,在我国人群中首次发现一例稀有β-链变异体:HbD Ouled Rabah [β19(B1)Asn→Lys]。先证者女,14岁,壮族,广西靖西县人。先证者母亲及其三个兄妹均为携带者,无明显临床症状。更多还原

【Abstract】 Identification of a case of slow-moving β-chain hemoglobin variant mainly with reverse phase high performance liquid chromatography (HP-LC) and microcellulose thin layer membrane finger-printing technique is described. The variant is identified to be HbD Ouled Rabah Pl9(Bl)Asn→ Lys, being the first case found in China. The proband was a 14-years-old female of Zhuang ethnic origin, living in Guangxi Zhuang Autonomous Region, China. Family study showed that the proband’s mother and 3 of her 5 sisters and brothers also carry HbD Ouled Rabah. They are all he-terozygotes for the Hb variant, having no distinct clinical symptoms and hematologic abnormalities.更多还原