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本文首次报道在我国河北省人群中发现一例 Hb J Sardegna a 50(CE 8)His→Asp 的化学结构分析结果,首证者为男性,51岁汉族,祖籍河北省怀来县人,家族调查结果显示首证者之子,携带有与首证者相同的异常快速 Hb,首证者之母与子女均有 Hb F 增高现象(?)但无轻度贫血及红细胞形态改变,因此,似乎可以除外 Hb J Sardegna 合并地中海贫血的双重杂合子的可能性。与此同时,发现另外一例 Hb G San→Jose β7(A 4)Glu-Gly 首证者为男性,44岁,汉族,河北省元氏县人,家族调查表明,所有携带者均有与首证者相同的异常 Hb,且既无临床症状,又无血液学异常。
This paper reports for the first time in our population in Hebei Province, a case of Hb J Sardegna a 50 (CE 8) His → Asp chemical structure analysis results, the first certificate for the male, 51-year-old Han nationality, native of Huailai County, Hebei Province, the family survey results Shows that the first-born son carries the same abnormal fast Hb as the first-born daughter, and the first and second daughter both have increased Hb F (?) But no mild anemia and altered erythrocyte morphology, so it seems that Hb J Sardegna Possibility of Haplotype Hybridization in Thalassemia. Meanwhile, another case of Hb G San → Jose β7 (A 4) Glu-Gly was found as male, 44 years old, Han nationality, Yuanshi County, Hebei Province. A family survey showed that all carriers had the first card The same abnormal Hb, and neither clinical symptoms nor hematological abnormalities.