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目的:探讨广西地区非缺失型遗传性持续性胎儿血红蛋白综合征(non-deletional hereditary persistence of fetal hemoglo-bin,nd-HPFH)的基因突变和临床表型特点。方法:对2011年12月至2012年6月在广西医科大学第一附属医院就诊的患者进行血常规检测;应用高效液相色谱法进行Hb分析;应用DNA测序方法分析g珠蛋白基因突变;用反向斑点杂交和Gap-PCR方法检测地中海贫血基因突变。结果:在胎儿血红蛋白(Hb F)增高的病例中检测出6例Ag-158C→T突变杂合子,其中有5例合并Gg-158C→T突变,1例同时伴有杂合子β地中海贫血CD 41/42突变,1例伴有-α3.7缺失型α地中海贫血。血常规检测显示6例病例的Hb为108～129g/L,MCV 66.4～85.4fL,MCH为23.4～30.7pg。血红蛋白分析结果显示Hb F均升高,为4%～18%。5例Hb A2正常,1例复合β地中海贫血杂合子的Hb A2为5.7%。结论:首次在中国人群中检出Ag-158C→T突变导致nd-HPFH,其杂合子无临床症状,Hb F升高,血常规正常或MCV、MCH降低。当合并杂合子β地中海贫血或α地中海贫血时,MCV,MCH降低。
Objective: To investigate the gene mutation and clinical phenotypic characteristics of non-deletional hereditary persistence of fetal hemoglobin (nd-HPFH) in Guangxi. Methods: Blood samples were collected from patients who were admitted to the First Affiliated Hospital of Guangxi Medical University from December 2011 to June 2012. High-performance liquid chromatography (HPLC) was used for Hb analysis. DNA sequencing was used to analyze g-globin gene mutations. Reverse blot hybridization and Gap-PCR detection of thalassemia gene mutations. RESULTS: Six cases of heterozygous Ag-158C → T mutations were detected in cases of elevated fetal hemoglobin (Hb F), including 5 cases with Gg-158C → T mutation and 1 case with heterozygous β-thalassemia CD 41 / 42 mutations, 1 case accompanied by-α3.7 deletion α-thalassemia. Blood tests showed that Hb was 108 to 129 g / L in 6 patients, 66.4 to 85.4 fL in MCV, and 23.4 to 30.7 ppg in MCH. Hemoglobin analysis showed Hb F were increased, 4% to 18%. Hb A2 was normal in 5 cases and Hb A2 was 5.7% in one case of heterozygote of β-thalassemia. CONCLUSIONS: Ag-158C → T mutation was detected in Chinese population for the first time resulting in nd-HPFH. The heterozygotes had no clinical symptoms, elevated Hb F, normal blood or MCV and MCH. When combined with heterozygous beta thalassemia or alpha thalassemia, MCV, MCH were decreased.