广西梧州地区地中海贫血儿童地贫基因型构成分析

目的 了解梧州地区地中海贫血高风险儿童地中海贫血的检出率及基因型构成情况,为制定防治策略、降低发病率提供参考.方法 应用跨跃断裂点PCR和PCR结合反向斑点杂交技术对2010—2018年的梧州地区地中海贫血高风险患儿进行α地中海贫血4种缺失型、3种点突变以及β地中海贫血的17种点突变进行检测和构成分析.结果 地中海贫血...     

Health status,anxiety, depression,and quality of life of patients with thalassemia

Journal of Public Health - Thalassemia is one of the most common genetic disorders in the Mediterranean region, and is therefore considered a serious public health issue. In chronic conditions of...     

地中海贫血孕妇ALP、AFU和甲状腺激素变化情况

目的探讨地中海贫血孕妇早期体内碱性磷酸酶(ALP)、α-L-岩藻糖苷酶(AFU)和甲状腺激素变化情况。方法选取2016年2月-2017年3月在该院产科建档并进行产检的地中海贫血早期孕妇281例,同时设置281例正常孕周为3个月孕妇作为对照组。采集空腹静脉血2 ml注入紫色EDTA-K2抗凝管中,完成血液检测;采集空腹静脉血4 ml,静止,分离血清,检测ALP、AFU、血清游离三碘甲状腺原氨酸(FT_3)、血清游离甲状腺激素(FT_4)和促甲状腺激素(TSH),PCR+反向斑点杂交法检测确认地中海贫血。结果对照组孕妇ALP和AFU水平高于地中海贫血孕妇(P<0.05);地中海贫血孕妇TSH高于对照组孕妇(P<0.05);地中海贫血孕妇FT3和FT4低于对照组孕妇(P<0.05)。结论地中海贫血孕妇早期ALP、AFU和甲状腺激素水平受到影响。     

少数民族β-地中海贫血基因突变型分布特点

目的 了解β-地中海贫血在贵州省苗族、水族、瑶族中的基因突变型特点、基因型频率及分布规律。方法 采用“红细胞休克-管定量法”测定红细胞脆性，HbF和HbA2定量等方法对人群进行β-地中海贫血初筛，用常规酚-氯仿抽提法提取β地中海贫血携带者DNA，经PCR-反向点杂交法对β株蛋白进行突变基因分析。结果 受检2566人中，共检出134例β-地中海贫血携带者，总检出率为5．22％，其中苗族、水族、瑶族检出率分别为4．72％．6．06％，4．45％。经8珠蛋白突变基因分析，在这3个民族中仅检出两种中国人常见突变型CD41-42和CD17,检出率分别为88．1％，60．0％，23％。结论 在贵州省少数民族中β-地中海贫血有很高的发病率，基因突变类型具有显著的民族特征，并且提示在贵州省少数民族中有可能存在未知或罕见的突变类型。     

Influence of infection/inflammation, thalassemia and nutritional status on iron absorption

Iron balance in human beings is maintained by the control of absorption. Recent observations have demonstrated that a peptide hormone, hepcidin, is the principal regulator of iron homeostasis. It is produced in the liver in response to increasing iron stores. It is also induced by interleukin-6 (IL-6) in infectious and inflammatory diseases. Hepcidin restricts both iron absorption and iron release from stores. Disorders that affect the duodenum or stomach directly, particularly gluten enteropathy and H. pylori infections, also impair iron absorption by damaging enterocytes or reducing gastric acid output. Hepcidin secretion is suppressed by accelerated erythropoiesis even when iron stores are increased. This appears to account for the contribution that excessive absorption makes to the iron overload seen in patients with iron-loading anemias such as thalassemia major. There is some evidence suggesting that two nutritional deficiency disorders (deficiencies of vitamin A and riboflavin) lead to impaired iron absorption or utilization, but further research is needed to reconcile conflicting experimental observations.     

The experiences of adolescents with thalassemia in West Bengal, India

In disadvantaged settings, where medical and socioeconomic support structures are inadequately developed, adolescent thalassemic patient respondents (ATPRs) live a dismal existence. In this article, the authors explore the experiences of ATPRs in West Bengal, India, with a view to addressing the question of whether thalassemia can be considered a disability, using a qualitative research design involving a purposive sampling method. The authors conducted in-depth interviews with 36 patients. The findings show that culture and education play a major role in illness experiences. The consequence of thalassemia is extremely stressful, and patients face a variety of physical, psychological, and social problems. Considering these experiences, the study concludes that thalassemia might be officially considered as a disability in India, requiring a multiple theoretical as well as a multipronged intervention method to tackle it adequately.     

广西崇左市中学生地中海贫血流行病学调查及基因突变类型分析

目的 对广西崇左市中学生进行地中海贫血(地贫)流行病学调查,了解地贫基因携带率和地贫基因突变类型.方法 2008年6月10-20口在崇左市所辖7个区县(市)中抽签分别确定一所中学,在志愿参加调查的学生中按当地人口0.5‰比例确定调查人数,检测12～16岁学生1097名(男515名,女582名),其中壮族968名(男438名,女530名),汉族128名(男76名,女52名),瑶族1名(男性).以Cell Dyn 1700全自动血细胞分析仪进行血细胞分析,以血红蛋白自动分析仪--VARIANT进行血红蛋白F和血红蛋白A2(HbA2)定量检测.HbA2≥4%为β地贫另进行α和β地贫基因分析,HbA2≤4%但平均红细胞体积(MCV)≤80 fl的标本进行a地贫基因分析.结果 1097名学生中地贫总检出率为25.62%.其中检出α地贫218例(19.87%),β地贫50例(4.56%),α地贫复合β地贫13例(1.19%).男生检出地贫133例(25.83%),女生检出地贫148例(25.43%),男女生间检出率差异无统计学意义(P>0.05).968名壮族学生检出地贫255例(26.34%),128名汉族学生检出地贫25例(19.52%),壮族学生检出率高于汉族学生,差异有统计学意义(P<0.01).检出3种缺失型α地贫基因(-α3.7/,-α<4.2/和--SEA/)和3种非缺失型α地贫基因(ααCS/、ααWS/和ααQS/),其中ααWS/检出率较高.β地贫基因突变类型以CD41-42最为常见.地贫MCV低于健康对照,差异有统计学意义(P<0.01).在MCV为79～80fl的样本中检出α地贫,如果以MCV<79 fl为地贫表型阳性的指标,则有32例漏诊,漏诊率达2.97%.结论 广西崇左市中学生地贫基因携带率高,壮族学生检出率高于汉族学生;ααWS/检出率较高,β地贫基因突变类型以CD41-42最为常见.     

β-地中海贫血基因诊断及临床应用

摘要:β-地中海贫血是β-珠蛋白基因突变导致β-珠蛋白链合成减少或缺乏所引起的一种遗传性溶血性贫血,本病发病范围广,各地区有不同的发病率。β-珠蛋白基因最常见的突变类型是点突变,中国南方地区已发现β-地中海贫血基因突变有46种。随着分子生物学研究技术的不断发展,β-地中海贫血的基因诊断方法也不断改进和完善。本文从β-地中海贫血的基因诊断角度出发,对目前仍在使用及新近出现的β-地中海贫血点突变检测技术及其在临床上的应用进行综述。     

桂林市城镇育龄人群地中海贫血现况调查

目的 调查桂林市城镇育龄人群地中海贫血(地贫)的现况.方法 用红细胞平均容积(MCV)和血红蛋白电泳法对所有调查对象进行地贫筛查,对筛查出疑为α地贫或β地贫标本进一步采用PCR结合反向点杂交法(ROB)进行基因检测,以检出地贫基因来确诊.结果 在1580例受检者中,确定α地贫基因型的有79例,检出率为5.00%,α贫在男女性中检出率分别为5.32%、4.68%,差异无统计学意义(X2=3.04,X2＜X0.05(1)=3.84,P＞0.05);确定β地贫基因型的有114例,检出率为7.22%,β地贫在男女性中检出率分别为7.85%、6.58%,差异无统计学意义(X2=0.95,X2＜X0.05(1)=3.84,P＞0.05);总的地贫检出率为12.22%(193/1580).α地贫共检出10种基因型,以轻型--SEA/αα为主,检出率为3.54%;静止型以-α3.7/αα居多,轻型以--SEA/αα居多,中间型以--SEA/-αCS居多;其构成比分别为7.59%、70.88%、2.53%;B地贫共检出7种基因型,以CD41-42(-TTCT)居多,检出率为3.16%,其中最常见的3种基因型CD41-42(-TTCT)、CDl7(A→T)和IVS-Ⅱ-654(C→T),构成占突变基因的87.71%;β、α复合型地贫检出率为0.63%.结论 桂林市城镇育龄人群地贫检出率较高.     

地中海贫血妇女妊娠结局分析

目的探讨地中海贫血合并妊娠患者的妊娠结局。方法选择2008年7月～2011年10月在四川大学华西第二医院住院分娩的95例地中海贫血合并妊娠者(地贫组),选择同期在本院住院分娩的1145例妊娠合并缺铁性贫血(缺铁性贫血组)和19117例孕期血红蛋白正常孕妇(正常对照组),回顾性分析3组研究对象的临床特征及妊娠结局。结果 3组间剖宫产率、胎膜早破、巨大儿、羊水过多、羊水过少、子痫前期、妊娠期肝内胆汁淤积症、妊娠期糖尿病、产后出血等发生率的差异均无统计学意义(P﹥0.05);地贫组新生儿出生体重低于正常对照组,差异有统计学意义(P=0.000);地贫组足月低体重儿的发生率显著高于正常对照组,差异有统计学意义(P﹤0.05)。结论地中海贫血合并妊娠对妊娠结局有一定的影响,应加强这类孕妇的围产期保健。     

云南省德宏州少数民族儿童贫血与地中海贫血调查

目的 了解云南省德宏州少数民族儿童贫血与地中海贫血的发生情况.方法 对云南省德宏州的傣、景颇、德昂、阿昌族等少数民族儿童共2 153例进行血红蛋白电泳检测贫血与地中海贫血.结果 所调查的地区贫血患病率为22.1%,地中海贫血筛查阳性率为59.0 %,地中海贫血患病率为25.5 %,其中β-地中海贫血患病率为18.3 %,α-地中海贫血患病率为7.2 %.α-地中海贫血患病率随年龄增加而降低,差异有统计学意义;β-地中海贫血患病率随年龄增加而增加,但差异无统计学意义.多个县市之间、不同少数民族之间两两比较,差异有统计学意义.地中海贫血阳性者贫血率高于非阳性者,差异有统计学意义.结论 德宏州少数民族儿童贫血和地中海贫血在云南属高发,其患病率在所调查的不同的年龄、民族及地区有差异.该调查为云南省德宏州的少数民族进行贫血和地中海贫血的预防提供了有价值的基础资料.     

The frequency of anaemia,iron deficiency,hemoglobin S and beta thalassemia in the South of Turkey

A survey on the prevalence of anemia, iron deficiency, and hemoglobinopathies (Hb S and beta thalassemia) was carried out in an ethnically mixed and carefully registered population of 45,000 living in an area in the Southern Turkey. A total of 1223 subjects (representing the population with respect to sex and age group) were surveyed. The rate of anemia was found to be 16.9% overall with a highest prevalence of 18.3% in the children (0–2 ages) and 16.3% in the 14+ age group. The prevalence of iron deficiency using low transferrin saturation as criteria was found to be 17.2% overall, being 48.0% in the infant group, 19.6% in the children, and 14.7% in the 14+ age group. The rate of Hb S using the sickling test was found to be 3.9% in the entire population without separating for ethnic groups. It was more prevalent (9.6%) in the Arabic speaking and not found at all in the Kurdish speaking people. The rate of beta thalassemia with a high HbA₂ was 3.4% overall and highest (7.1%) in the Kurdish speaking people.     

MCV、MCH 用于地中海贫血筛查的能效验证

目的 分析地中海贫血不同基因型MCV、MCH值,参照2020年地中海贫血妊娠期管理专家共识(简称共识),验证共识MCV、MCH截断值的筛查能效,为临床诊疗及遗传咨询提供数据参考。 方法 选取2016年10月—2021年2月在湖南省妇幼保健院进行婚检、孕检对象, 以全自动血细胞分析仪检测MCV、MCH,Gap-PCR检测三种常见缺失型α地贫突变,RDB-PCR检测三种常见α地贫点突变和17 种常见β地贫点突变,收集地贫基因检测阳性样本数据3 234例进行统计分析。 结果 3 234例地贫阳性样本中,血常规MCV、MCH值随着地贫临床分型的加重逐渐降低,静止型a地贫及轻型地贫αCSα/αα、CAPM/N基因型MCV、MCH均值均高于共识截断值,漏检率分别为61.73%、79.37%、100.00%;轻型β地贫βEM/N基因型MCV、MCH均值位于共识截断值附近,漏检率35.00%;其他基因型(除外个别复合地贫)MCV、MCH均值都低于共识准截断值,漏检率0%～5%左右。 结论 不同地贫基因型MCV、MCH值有相应的取值范围,根据共识推荐的截断值(MCV<82 fl和(或)MCH<27 pg)筛查地贫携带者,可能导致静止型地贫及轻型地贫αCSα/αα、βEM/N、CAPM/N基因型高漏检,夫妻同步筛查MCV、MCH可以大幅提高只筛查孕妇的筛查能效。     

地中海贫血患儿青春期启动状况及影响因素分析

目的 分析地中海贫血患儿性发育异常的影响因素,进一步提高地中海贫血患儿的生活质量.方法 选取2015年1月至2018年12月期间广西医科大学第二附属医院收治的106例12～16岁地中海贫血患儿为研究对象,根据是否出现性腺发育将研究对象分为性发育组46例和性未发育组60例.收集患儿的年龄、性别、籍贯、体质量指数(B M I)、地中海贫血类型、初次输血年龄、治疗情况、是否脾切除、血清铁蛋白(SF)水平、血红蛋白(Hb)水平、胰岛素样生长因子结合蛋白-3(IGFBP-3)水平等资料,对可能影响地中海贫血患儿性发育的因素进行单因素分析后行多因素Logistic回归分析.结果 出现自发性青春期发育的患儿占43.40％(46/106),未发育者占56.60％(60/106).未规范输血治疗及祛铁治疗、SF水平≥1420μg/L、IGFBP-3水平<62μg/L、Hb水平<92g/L均是影响地中海贫血患儿性发育的危险因素(W aldχ2值分别为10.254、12.956、10.038、12.039、9.889,P<0.001).结论 地中海贫血患儿性发育现状问题严峻,部分患儿存在无性发育情况,其中男性患儿多见.未规范输血治疗及祛铁治疗、SF水平高、IGFBP-3水平和Hb水平低均是影响地中海贫血患儿性发育的危险因素,临床可根据相关影响因素及时给予患儿有效干预.     

广东潮汕地区地中海贫血基因突变谱分析

目的了解潮汕地区地中海贫血的基因突变类型及构成比,为更准确地进行地贫诊断提供理论依据。方法应用跨越断裂点聚合酶链反应(Gap-polymerase chain reaction,Gap-PCR)、反向斑点杂交(reverse dot blot,RDB)技术和PCR+导流杂交法,分析潮汕4个地理区域(汕头、潮州、揭阳、汕尾)的地贫基因突变类型。结果 2 057例地贫样本中,检出14种α-地贫突变基因和19种β-地贫突变基因,同时检出α和β复合型地贫13种。α-地贫中最常见的基因型为东南亚缺失型(--SEA),β-地贫以IVS-Ⅱ-654M位点突变最为常见,其次是41/42M。结论潮汕地区地中海贫血的基因突变类型呈多样化,本研究的数据可为本地区开展地贫诊断和研究提供参考资料。     

'Rakter dosh'--corrupting blood: The challenges of preventing thalassemia in Bengal, India

Thalassemia is an inherited blood disorder that has been receiving increasing attention in India. However, prevention of thalassemia in India continues to be difficult despite efforts of public health professionals and the government. Using West Bengal as a case study, this paper attempts to unravel some of the barriers to the prevention campaign and the consequent under utilization of the program. Lack of access, low awareness, low-risk perception and poverty are all important proximate constraints; however, one of the greatest barriers to the program is rooted in cultural notions of blood, marriage, identity, personhood and kinship in Bengali society. Blood is so deeply valued in the Bengali kinship system that this genetic mutation is perceived to be corrupting the blood (rakter dosh). Being a thalassemia carrier (i.e., having thalassemia minor) renders an individual unfit as a suitable marriage partner because of beliefs related to purity of blood, its association with the continuity of the lineage, and subsequent transmission of desirable traits to future generations. The risk of non-marriage affects women disproportionately, and parents are not inclined to test their daughters because of the possibility of not being able to marry them off to eligible suitors. The stigma associated with having thalassemia minor (TMI) is a deterrent to the disclosure of thalassemia status as well as to testing. Using anthropological theories and ethnographic methods, this paper focuses on the gendered process by which the diagnosis of a thalassemia carrier 'spoils' identities, thereby creating a disjuncture between the goals of the prevention program and people's need for social conformity, and ultimately between medical desirability and social desirability. The paper also suggests policies for enhancing the utilization of the program. Finally the conclusions from this study have potential applications for public health prevention programs that confront problems of stigma in program acceptability.     

南宁地区新生儿地中海贫血筛查结果分析

摘要:目的　在南宁地区新生儿中进行地中海贫血（地贫）筛查,为临床诊断和早期治疗提供依据。方法　应用毛细管电泳法对19 419例新生儿干血斑进行血红蛋白分析,对筛查阳性新生儿召回进行地贫基因分析。结果　19 419例样本中,检出α地贫表型2 085例,β地贫表型1 428例,包括α合并β地贫77例,异常血红蛋白121例。1 085例进行基因分析,α地贫确诊符合率为94.16%（645/685）显著高于β地贫的41.10%（164/399）（χ2＝430.067,P＜0.01）,基因型以αα/--SEA、CD41-42（-TCTT）最常见。α地贫确诊率男与女（χ2＝0.029,P＞0.05）、壮族与汉族间（χ2＝0.028,P＞0.05）差异无统计学意义,β地贫确诊率女性高于男性（χ2＝17.207,P＜0.01）、壮族显著高于汉族（χ2＝9.539,P＜0.01）。结论　南宁地区新生儿地贫的基因突变类型、携带率及表型与人群有关,在本地区开展新生儿地贫筛查很有必要。     

地中海贫血儿童体内微量元素的探讨

目的探讨地中海贫血儿童全血中钙、铜、铁、镁、锌、镉、铅元素含量,为营养膳食提供依据。方法选取2015年1~12月在佛山市禅城区中心医院门诊儿童333例,其中疾病组133例,对照组200例。采用广东凯普生物科技股份有限公司α和β地中海贫血基因检测试剂盒进行诊断,采用北京博晖创新光电技术股份有限公司的BH5100T型与H100T型微量元素分析仪测定微量元素含量。结果疾病组与对照组微量元素Ca、Fe、Mg、Pb、Zn呈正态分布,而Cd、Cu呈偏态分布。疾病组儿童全血中Ca、Cu、Zn含量明显高于对照组,而Fe、Mg含量则低于对照组,差异有统计学意义(P<0.05)。Cd、Pb含量无统计学差异(P>0.05)。结论地中海贫血儿童微量元素钙、锌及铜与正常对照相比升高,铁、镁降低,提示地中海贫血儿童体内微量元素分布异常,临床需采取干预措施,避免微量元素异常引发疾病。