- 作者列表："He X","Li QH","Yi SW","Tan S","Li CL
OBJECTIVE:To investigate the influence of iron deficiency on the index of thalassemia screening. METHODS:876 blood samples of the couples at childbearing age, who underwent red blood cell analysis, hemoglobin electrophoresis, ferritin and gene diagnosis were selected. The samples were divided into normal, iron deficiency, αthalassemia, α-thalassemia combining with iron deficiency, β-thalassemia and β-thalassemia combining with iron deficiency group. The differences of hematology index and hemolobin value A2 between each groups were analyzed. RESULTS:The value of Hb, MCV, MCH, MCHC in iron deficiency, αthalassemia, α-thalassemia combining with iron deficiency, β-thalassemia and β-thalassemia combining with iron deficiency group all were lower than that of normal group, while the value of RDW-CV was higher, in which the difference between β-thalassemia was the highest. The distribution of HbA2 among each groups was not significantly different expect of β-thalassemia. There was no significant correlation between HbA2 and ferritin level. CONCLUSION:RDW-CV increases in both iron deficiency and thalassemia. Iron deficiency has no significant effect on the level of hemoglobin A2. 题目:铁缺乏对地中海贫血筛查指标的影响. 目的:探讨铁缺乏对地中海贫血筛查指标的影响. 方法:选取我院同时进行血分析、血红蛋白电泳、血清铁蛋白检测和地中海贫血基因诊断的育龄期夫妇血液样本876份，分为正常组、铁缺乏组、α-地中海贫血组、α-地中海贫血合并铁缺乏组、β-地中海贫血组、β-地中海贫血合并铁缺乏组，统计分析各组血液学指标和血红蛋白A2（HbA2）水平差异. 结果:铁缺乏组、α-地中海贫血组、β-地中海贫血组和地中海贫血合并铁缺乏组血液学指标Hb、MCV、MCH、MCHC均明显低于正常组（P＜0.05），RDW-CV均明显高于正常值（P＜0.05），其中，β-地中海贫血差异最明显。除β-地中海贫血外其余各组间HbA2结果及分布无明显差异，HbA2与铁蛋白水平无明显相关. 结论:RDW-CV在铁缺乏和地中海贫血时均可升高。铁缺乏对血红蛋白电泳HbA2结果无明显影响.
目的: 探讨铁缺乏对地中海贫血筛查指标的影响。 方法: 选择育龄夫妇的血液标本876份，分别进行红细胞分析、血红蛋白电泳、铁蛋白和基因诊断。将样本分为正常组、铁缺乏组、 α 地中海贫血合并铁缺乏组、 β 地中海贫血组和 β 地中海贫血合并铁缺乏组。分析各组间血液学指标及血红蛋白值A2的差异。 结果: 铁缺乏组、 α 地中海贫血合并铁缺乏组、 β 地中海贫血和 β 地中海贫血合并铁缺乏组的Hb、MCV、MCH、MCHC值均低于正常组，而RDW-CV值较高，其中 β-地中海贫血的差异最高。对于 β-地中海贫血，各组中HbA2的分布没有显著差异。Hba1c与铁蛋白水平无明显相关性。 结论: RDW-CV在缺铁和地中海贫血中均升高。铁缺乏对血红蛋白a2水平无显著影响。 题目:。 目的: 也。 方法: 选择我院同期进行血液分析、血红蛋白钙、876份，分别为正常组、铁缺乏组、 α-地中海血贫血并缺铁组、 β-地中海血贫血并缺铁组、A2(HbA2) 平水差。 结果:铁缺乏组、 α-地中海血贫组、 β-、MCV、MCH、mchc均显著低于正常组(P<0.05)，RDW-cv均显著高于正常值(P<0.05)，其中，β-地中海血贫血差异最大，无铁质差异。 结论:RDW-。铁缺乏对血红蛋白电hbahba2结果无明显影响。
METHODS:BACKGROUND:Thalassemia is one of the most common monogenetic diseases in the south of China and Southeast Asia. Hemoglobin Bart's hydrops fetalis syndrome was caused by a homozygous Southeast Asian deletion (-/-) in the HBA gene. Few studies have proved the potential of screen for Bart's hydrops fetalis using fetal cell-free DNA. However, the number of cases is still relatively small. Clinical trials of large samples would be needed. OBJECTIVE:In this study, we aimed to develop a noninvasive method of target-captured sequencing and genotyping by the Bayesian method using cell-free fetal DNA to identify the fetal genotype in pregnant women who are at risk of having hemoglobin Bart hydrops fetalis in a large-scale study. STUDY DESIGN:In total, 192,173 couples from 30 hospitals were enrolled in our study and 878 couples were recruited, among whom both the pregnant women and their husbands were detected to be carriers of Southeast Asian type (-/αα) of α-thalassemia. Prenatal diagnosis was performed by chorionic villus sampling, amniocentesis, or cordocentesis using gap-polymerase chain reaction considered as the golden standard. RESULTS:As a result, we found that the sensitivity and specificity of our noninvasive method were 98.81% and 94.72%, respectively, in the training set as well as 100% and 99.31%, respectively, in the testing set. Moreover, our method could identify all of 885 maternal samples with the Southeast Asian carrier and 36 trisomy samples with 100% of sensitivity in T13, T18, and T21 and 99.89% (1 of 917) and 99.88% (1 of 888) of specificity in T18 and T21, respectively. CONCLUSION:Our method opens the possibility of early screening for maternal genotyping of α-thalassemia, fetal aneuploidies in chromosomes 13/18/21, and hemoglobin Bart hydrops fetalis detection in 1 tube of maternal plasma.
METHODS:OBJECTIVES:Sickle cell disease (SCD) is a serious illness with disabling acute and chronic pain that needs better therapies, but insufficient patient participation in research is a major impediment to advancing SCD pain management. The purpose of this article is to discuss the challenges of conducting an SCD study and approaches to successfully overcoming those challenges. DESIGN:In a repeated-measures, longitudinal study designed to characterize SCD pain phenotypes, we recruited 311 adults of African ancestry. Adults with SCD completed 4 study visits 6 months apart, and age- and gender-matched healthy controls completed 1 visit. RESULTS:We recruited and completed measures on 186 patients with SCD and 125 healthy controls. We retained 151 patients with SCD with data at 4 time points over 18 months and 125 healthy controls (1 time point) but encountered many challenges in recruitment and study visit completion. Enrollment delays often arose from patients' difficulty in taking time from their complicated lives and frequent pain episodes. Once scheduled, participants with SCD cancelled 49% of visits often because of pain; controls canceled 30% of their scheduled visits. To facilitate recruitment and retention, we implemented a number of strategies that were invaluable in our success. CONCLUSION:Patients' struggles with illness, chronic pain, and their life situations resulted in many challenges to recruitment and completion of study visits. Important to overcoming challenges was gaining the trust of patients with SCD and a participant-centered approach. Early identification of potential problems allowed strategies to be instituted proactively, leading to success.
METHODS:OBJECTIVES:Sickle cell anemia is the commonest genetic disorder in India, and the frequency of the sickle cell gene is very high in the remote tribal areas where facilities are generally limited. Therefore, a rapid and affordable point-of-care test for sickle cell disease is needed. METHODS:The diagnostic accuracy of HemoTypeSC was evaluated against automated high-performance liquid chromatography (HPLC) as the gold standard for its efficacy in a newborn screening program. RESULTS:A total of 1,559 individuals (980 newborns and 579 adults) from four participating centers were analyzed by both methods. HemoTypeSC correctly identified 209 of 211 total hemoglobin (Hb) SS cases, for a 99.1%/99.9% total HbSS sensitivity/specificity. Overall, HemoTypeSC exhibited sensitivity and specificity of 98.1% and 99.1% for all possible phenotypes (HbAA, HbAS, and HbSS) detected. HPLC is relatively expensive and not available in most laboratories in remote tribal areas. CONCLUSIONS:We conclude that the rapid, point-of-care testing device HemoTypeSC test is suitable for population and newborn screening for the HbS phenotype.