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中文摘要：
目的研究桂西地区中间型β-地中海贫血（β-TI）的临床表型和基因型特点,为β-TI的诊治、遗传咨询和产前诊断提供依据。方法对56例8个月～17岁的β-TI患儿的临床表现、并发症、红细胞数、血清铁蛋白、血红蛋白电泳和基因类型等资料进行综合分析。结果患儿呈现出较广的临床表现谱,有地中海贫血外貌31例（55.4%）、黄疸25例（44.6%）、肝肿大34例（60.7%）、脾肿大40例（71.4%）、心脏扩大10例（17.8%）、体质量低7例（12.5%）、生长迟缓4例（7.1%）。行脾切除2例（3.5%）,输血41例（73.2%）。发病年龄较早者（〈2岁）26例（46.4%）。就诊原因前三位分别为感染19例（33.9%）、贫血19例（33.9%）和黄疸8例（14.3%）。有多系统并发症者多见于较大患儿。46例β-TI患儿进行了基因型检测,共检测出9种β珠蛋白基因突变和27种复合的基因组合方式。结论桂西地区β-TI具有较为特殊的基因型特征。该地区患儿发病较早,有较宽的临床表现谱及多系统并发症。
英文摘要：
Objective To study the characteristics of clinical manifestation and genotypes with beta-thalassemia intermedia（TI）and provide the knowledge of treatment,genetic counseling and prenatal diagnosis for TI in western Guangxi.Methods Clinical manifestations,complications and laboratory data（including erythrocyte indices,serum ferritin,hemoglobin electrophoresis,and gene analysis of 56 TI patients were studied.Results Phenotypes：of 56 TI patients enrolled in the study,46.4% patients had earlier onset before two years old.Infections（33.9%）,anemia（33.9%）and jaundice（14.3%）were the top three causes of the initial hospital visits.Most cases had thalassemia-face appearance（55.4%）,hepatomegaly（60.7%）,splenomegaly（71.4%）,and enlarged heart（17.8%）.Two（3.5%）cases got splenoectomy.About 73.2% cases took blood transfusion on occasion.Some patients had multi-system complications and more common in older children.Forty-six patients had genetic analysis,9 types of mutation and 27 types of combined gene organization were found.Conclusions Characteristics of genotypes and phenotypes with beta-thalassemia intermedia in western Guangxi were described the first time.A wide spectrum of clinical phenotypes of TI was seen in this area and genotype/phenotypes showed heterogeneity and have its own characteristic in Baise city.
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