血红蛋白santa ana的表型和基因型分析[ ] 【摘要】目的 探讨一例在 .doc

血红蛋白Santa Ana的表型和基因型分析( 【摘要】目的 探讨一例在中国人群中首次发现的血红蛋白Santa Ana (Hb Santa Ana)的表型和基因型。方法 采用全自动血细胞分析仪先证者及其高效液相色谱分析（HPLC）技术检测先证者及其血红蛋白组分裂口PCR（Gap-PCR）及PCR-反向点杂交 (PCR-RDB)技术检测中国人常见的地中海贫血突变珠蛋白基因测序突变位点。结果 先证者1012/L，血红蛋白量（HGB）：90g/L，红细胞压积（HCT）：33.7%，红细胞分布宽度（RDW）：21.3% ，未检出中国人常见的突变；高效液相色谱分析出现异常峰，异常峰面积占总面积的比例为%；珠蛋白基因测序显示先证者β第位密码子CTGCCG且为杂合突变。红细胞参数均正常结论 先证者为Hb 杂合子，该 【关键词；突变；珠蛋白基因 中图分类号:R555 文献标志码:A nalysis of Hb Santa Ana 【Abstract】 Objective To analyze the phenotype and genotype of Hb Santa Ana which is reported for the first time in China. Method The RBC parameters of the proband and his parents were detected by automatic hemocyte analyzer. Hemoglobin components analysis was done using high performance liquid chromatography (HPLC). The common thalassemia gene mutations in Chinese people were examined by Gap-PCR and PCR-reverse dot blot (PCR-RDB). The location of the mutation was confirmed by globin gene sequencing . Results The RBC parameters of the proband was as follows: RBC 3.36?012/L, HGB 90g/L, HCT 33.7%, RDW 21.3%, RET 0.141. sThe proband presented an aberrant chromatographic peak in the HPLC chromatogram which took up 4.5% of total area. The Chinese common thalassemia gene mutations were not detected in the proband. By globin gene sequencing, there was a heterozygous mutation of CTGCCG at codon 88 of β-globin gene in the proband. Whereas the parents presented normal in the RBC parameters, hemoglobin components analysis and globin gene sequencing. Conclusion The proband is Hb Santa Ana heterozygote. This variation present clinical manifestations of hemolytic anemia.This variation of the proband originates from somatic mutation. 【Key words】Hb Santa Ana; mutation; globin gene; phenotype ; genotype 血红蛋白病是由于基因缺陷导致珠蛋白肽链合成障碍或分子结构异常而引起的一组的遗传性疾病，包括地中海贫血和异常血红蛋白两大类[1]。我国异常血红蛋白的平均发生率为0.337%[2]Hb Santa Ana，以贫血、血红蛋白尿、脾脏肿大为主要特征。由于该病与其它病因引起的溶血性贫血临床症状类似，HPLC提示异常血红蛋白的存在，但常规地中海贫血筛查不能检测到该异常，依赖珠蛋白基因测序才能确诊。为避免临床漏诊误诊，现将该病例报道如下。 1 对象与方法 对象 先证者，男，岁，汉族，。于2013年月在医院就诊。体格检查：贫血貌，皮肤黄染，，脾。家族史：父母