[Genotype Analysis of Pregnant Women with α- and β- Thalassemia in Fuzhou Area of Fujian Province in China].
[中国福建福州地区 α 和 β 地中海贫血孕妇基因型分析]。
- 作者列表："Lin JF","Zeng ZY","Yang AP","Zheng L","Rui HB","Chen JM
OBJECTIVE:To analyze the genotype of pregnant women with α- and β- thalassemia in Fuzhou area of Fujian province in China. METHODS:Blood routine examination and hemoglobin electrophoresis were performed for pregnant women, and positive samples were examined by gap polymerase chain reaction and reverse dot blot hybridization. RESULTS:412 cases were diagnosed as α-thalassemia (63.9%); 201 cases were diagnosed as β-thalassemia (31.2%); 32 cases were diagnosed as α and β-composite thalassemia. There were 12 genotypes in α-thalassemia, whose major genotypes were --SEA/αα, α3.7/αα, -α4.2/αα and αQSα/αα, with carrying rate of 64.32%, 20.14%, 7.77% and 1.94%, respectively. There were 10 genotypes in β- thalassemia, whose major genotypes were CD41-42/N, CD17/N, IVS-II-654/N and -28/N, with carrying rate of 30.84%, 27.86%, 15.92% and 10.45%, respectively. There were 9 genotypes in α and β-composite thalassemia, whose major genotypes were --SEA/αα composited CD41-42/N, -α3.7/αα composited CD41-42/N, --SEA/αα composited CD17/N, with carrying rate of 18.75%, 15.62%, 15.62% respectively. CONCLUSION:The major genotypes of pregnant women with α- and β- thalassemia in Fuzhou area of Fujian province in China are --SEA/αα, α3.7/αα, CD41-42/N and CD17/N. Thalassemia screening and prenatal gene diagnosis should be strengthened in Fuzhou area of Fujian province in China. 题目:中国福建省福州地区地中海贫血孕妇基因类型分析. 目的:研究中国福建省福州地区地中海贫血孕妇基因类型. 方法:对孕妇进行血常规检测或血红蛋白电泳检测，阳性者采用跨跃断裂点PCR技术及PCR-反向点杂交法进行α地中海贫血基因检测，采用PCR-反向点杂交法进行β地中海贫血基因检测. 结果:645例确诊为地中海贫血孕妇中，412例为α地中海贫血（63.9%）；201例为β地中海贫血（31.2%）；32例α/β复合地中海贫血（4.9%）。α地中海贫血基因检测中共检测出12种基因型，--SEA/αα最为常见（265例，64.32%），其后依次为α3.7/αα 83例（20.14%），-α4.2/αα 32例（7.77%），αQSα/αα 8例（1.94%）；β地中海贫血基因检测中共检测出10种基因型，CD41-42/N最为常见（62例，30.84%），其后依次为CD17/N 56例（27.86%），IVS-II-654/N 32例（15.92%），-28/N 21例（10.45%）；α/β复合地中海贫血基因检测中共检测出9种复合基因型，--SEA/αα复合CD41-42/N最为常见（6例，18.75%），其后依次为-α3.7/αα复合CD41-42/N 5例（15.62%），--SEA/αα复合CD17/N 5例（15.62%）. 结论:中国福建省福州地区孕妇α、β地中海贫血基因型主要为--SEA/αα、α3.7/αα、CD41-42/N及CD17/N等。对福建省福州地区孕妇应加强地中海贫血筛查及产前基因诊断.
目的: 分析福建福州地区孕妇 α-和 β-地中海贫血基因型。 方法: 对孕妇进行血常规检查和血红蛋白电泳，并对阳性标本进行gap聚合酶链反应和反向斑点杂交检测。 结果: 诊断为 α-地中海贫血412例 (63.9%); 诊断为 β-地中海贫血201例 (31.2%); 诊断为 α 和 β-复合地中海贫血32例。Α-地中海贫血共有12种基因型，主要基因型为-SEA/α α 、 α3.7/α α 、-α4.2/α α 和 αq1 α/α α，携带率分别为64.32% 、20.14% 、7.77% 和1.94%。Β-地中海贫血共有10种基因型，主要基因型为CD41-42/N、CD17/N、IVS-II-654/N和-28/N，携带率分别为30.84% 、27.86% 、15.92% 和10.45%。Α 和 β-复合地中海贫血共有9种基因型，主要基因型为-SEA/α α 复合CD41-42/N、-α 3.7/α 复合CD41-42/N、-SEA/α α 复合CD17/N，携带率分别为18.75% 、15.62%。 结论: 中国福建福州地区孕妇 α-和 β-地中海贫血的主要基因型为-SEA/α α 、 α 3.7/α α 、CD41-42/N和CD17/N。福建省福州地区应加强地中海贫血筛查和产前基因诊断。 题目:。 目的: 也。 方法:，-，采用pcr-。 结果:645例例诊断为地中海血沉中，412例诊断为 α 地中海血沉中 (63.9%);201例诊断为 β 地中海血沉中 (31.2%);32例诊断为 α/β 复合地中海血沉中 (4.9%)。□ 12种基因型，-- SEA/α α 最常见(265例，64.32%)，其后依次为 α 3.7/α α 83例(20.14%)，-α 4.2/α α 32例(7.77%)，α qs α/α α 8例(1.94%); □ 10种基因型，CD41-42例/最常见(62例，30.84%)，其后依序为CD17/N 56例(27.86%)，IVS-II-654/N 32例(15.92%)，-28/N 21例(10.45%); Α/9种植复合材料型，-- SEA/α α 复合CD41-42/N最常见(6例，18.75%)，其后依赖二次为-α 3.7/α α 复合CD41-42/N 5例(15.62%)，-- SEA/α α 复合CD17/N 5例(15.62%)。 结论:中国福建省地区间 α 、 β 地中海贫血型主要要求为 -- SEA/α α 、 α 3.7/α α 、CD41-42/n及CD17/n等。
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.