目的：通过总结34例镰状细胞综合征（HbS 病）患者的血液学指标，分析其所导致的血液学和临床特点。方法选取2005年3月—2013年11月于广东省人民医院就诊的 HbS 病患者34例为研究对象，早晨空腹负压抽取静脉血进行血常规分析、血红蛋白（Hb）电泳分析、红细胞镰变试验、变性珠蛋白小体（Heinz 小体）试验、铁蛋白检测及葡萄糖-6-磷酸脱氢酶/6-磷酸葡萄糖酸脱氢酶（G6PD/6PGD）检测。结果 4例血红蛋白 S（HbS）纯合子患儿均未见正常 HbA 区带，大部分以 HbS 区带为主，少量HbA2区带；呈中度贫血。有3个 HbS 纯合子家系，父母均为 HbS 杂合子。HbS 杂合子成人患者中只有5例 Hb 在92~97 g/ L，呈轻度贫血，其余患者 Hb 均＞110 g/ L。HbS 杂合子新生儿患者中 HbS 含量低，低于7.00%。胎儿脐血和新生儿各有1例同时出现 HbS 和 Hb Barts 区带，提示HbS -α地中海贫血。1例孕妇是 HbS 杂合子，孕32周＋6行胎儿脐血分析是HbS -α地中海贫血。1例男婴的血常规分析与 Hb电泳分析结果提示其为HbS -β地中海贫血。婴儿、儿童、成人红细胞镰变试验阳性。4例成人HbS -α地中海贫血患者Heinz 小体试验为阳性。1例 HbS 杂合子患者铁蛋白低，为2.4μg/ L。4例男性 HbS 杂合子患者 G6PD/6PGD 为0.11~0.29，3例女性 HbS 杂合子患者 G6PD/6PGD 为0.51~ 0.70。结论 HbS 纯合子患者因 HbS 取代了正常的 HbA，容易导致血管栓塞，引起慢性溶血性贫血等临床症状，呈中度贫血；HbS 杂合子大部分不会对个体的临床表型产生影响，所以一般无临床症状或极少数症状较轻；HbS -α地中海贫血、HbS -β地中海贫血均可引起轻度贫血；HbS 杂合子合并缺铁性贫血、HbS 杂合子合并 G6PD 缺乏可加重贫血症状，呈中度贫血。%Objective To summarize hematological indicators of 34 cases of sickle cell syndrome( HbS disease), and to analyze the hematology and clinical characteristics. Methods A total of 34 patients with HbS disease who were treated in Guangdong General Hospital from March 2005 to November 2013,were selected as study subjects,all cases were compliant with inclusion and exclusion criteria. The fasting peripheral blood specimens of cases were obtained in the morning for routine blood analysis,hemoglobin electrophoresis,erythrocyte sickling test,Heinz body experiment,ferritin detection and G6PD/ 6PGD enzyme activity analysis. Results The normal HbA electrophoresis strip was not found in four cases with HbS homozygous,the HbS electrophoresis strip was common,the HbA2 electrophoresis strip was not common,cases had moderate anemia. There were 3 families with HbS homozygous,all parents were HbS heterozygote. Among adults with HbS heterozygote,the hemoglobin concentration of only 5 cases was 92 - 97 g/ L,and these 5 cases had mild anemia,the hemoglobin concentration of the rest adults with HbS heterozygote was above 110 g/ L. The newborns with HbS heterozygote had low HbS content( < 7. 00% ). One case of fetal umbilical cord blood and one case of newborn blood presented HbS and Hb Barts electrophoresis strip simutaneously, which indicated they were HbS - α thalassemia patients. One pregnant woman was HbS heterozygote,fetal umbilical cord blood analysis suggested HbS - α thalassemia on 32 weeks of pregnancy. The results of routine blood analysis and hemoglobin electrophoresis of 1 case of male infant indicated he was a HbS - β thalassemia patient. The erythrocyte sickling test result of baby, child and adult showed positive. Heinz body experiment presented positive in 4 adults with HbS - α thalassemia. One case of HbS heterozygote patient had low ferritin content(2. 4 ng/ ml). The G6PD/ 6PGD ratio was 0. 11 - 0. 29 in 4 male HbS heterozygous patients,and the G6PD/ 6PGD ratio was 0. 51 - 0. 70 in 3 female patients with HbS heterozygous. Conclusion For homozygous HbS patients,normal HbA is substituted by HbS,therefore,it is easy to lead to vascular embolism and chronic hemolytic anemia,the clinical phenotype of abnormal HbS homozygote is moderate anemia;in most cases,heterozygous HbS don't affect clinical phenotype of individuals,so there is no symptoms,or few cases have mild clinical manifestations;both HbS - αthalassemia and HbS - β thalassemia can cause mild anemia;heterozygous HbS complicated with iron - deficiency anemia,and heterozygous HbS complicated with G6PD deficiency may aggravate the symptoms of anemia,which leads to moderate anemia.
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