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今年,笔者在黔东南调查血红蛋白(Hb)病时,在榕江县发现一异常Hb家系,其临床、血液学、遗传学特征,理化测定和血红蛋白一级结构分析结果,证实为Hbnewyorkβ113(G15)Val→Glu复合β地中海贫血(简称地贫)的双重杂台子。现报道于下。病例资料首证者男性,12岁,侗族,常感头昏乏力,皮肤粘膜稍显苍白。血液学检查:Hb
This year, when investigating hemoglobin (Hb) disease in southeastern Guizhou, an abnormal Hb pedigree was found in Rongjiang County. The clinical, hematological and genetic characteristics, physico-chemical analysis and hemoglobin primary structure analysis revealed that Hbnewyorkβ113 (G15) Val → Glu complex beta thalassemia (referred to as thalassemia) double miscellaneous table. Now reported below. Case information First certificate Male, 12 years old, Dong, often feel dizzy, skin mucosa slightly pale. Hematology: Hb