急性溶血性贫血患儿人类骨髓端粒酶催化亚单位的表达

目的 探讨急性溶血性贫血患儿人类骨髓端粒酶催化亚单位(hTERT)的表达及其与外周静脉血Hb水平的关系.方法 急性溶血性贫血患儿15例.男13例,女2例;年龄5.5～11.0岁.其中葡萄糖-6-磷酸脱氢酶(G-6-PD)缺乏症患儿10例;药物诱导性溶血性贫血患儿5例.选择同期本院血液/肿瘤科病房确诊为上呼吸道感染所致的粒细胞减少症、骨髓检查正常患儿10例为对照组;4株K562细胞为阳性对照.采集G-6-PD缺乏症、药物诱导性溶血性贫血和粒细胞减少症患儿外周静脉血,全自动血液分析仪XE2100检测各组患儿外周静脉血Hb水平,采用Zinkham法检测G-6-PD缺乏症和对照组患儿血G-6-PD活性,分析二组患儿血G-6-PD活性的差别.采集急性溶血性贫血组和对照组患儿胸骨骨髓,采用半定量反转录-聚合酶链反应检测其骨髓和阳性对照K562细胞株的hTERT的相对表达水平,比较急性溶血性贫血组与对照组患儿、阳性对照K562细胞株hTERT相对表达水平的差异.常规检测急性溶血性贫血患儿外周血Hb水平.采用Pearson直线相关分析急性溶血性贫血患儿骨髓hTERT表达水平与外周血Hb水平的关系.结果 与对照组比较,G-6-PD缺乏症患儿血G-6-PD活性明显下降(t=8.373 P=0).急性溶血性贫血患儿骨髓hTERT相对表达水平显著高于对照组患儿(t=6.052 P=0),但明显低于K562细胞株(t=9.893 P=0).急性溶血性贫血患儿骨髓hTERT表达水平与其外周血Hb水平呈负相关(r=-0.888 P=0).结论 急性溶血性贫血患儿急性溶血时,低水平Hb可在一定范围内上调骨髓hTERT表达水平.     

造血器官及血液疾病

070517768例小儿贫血病因分析/何梅∥中国妇幼保健.-2006,21(17).-2385~2386贫血病因顺位依次为:地中海贫血(60.03%),营养性贫血(23.83%),G-6-PD缺陷性溶血性贫血(5.08%),感染性贫血(3.77%),其他(7.29%)。地中海贫血与其它贫血病因有显著性差异(P<0.05)。参3(原文摘要)070518住院儿贫血转归影响因素研究/郑敏翠…∥中国现代医学杂志.-2006,16(18).-2801~2803,2806通过住院病历记录和自拟调查问卷分析787例住院贫血患儿。结果:787例贫血患儿出院时贫血的转归:41例患儿痊愈,535例患儿好转,211例患儿未愈;单因素与多因素非条件Logistic逐步回…     

地中海贫血并自身免疫性溶血性贫血1例、并红细胞G-6-PD 3例

我科收治了地中海贫血合并自身免疫性溶血性贫血1例、合并红细胞葡萄糖-6-磷酸脱氢酶缺陷(G-6-PD)3例患儿,现报告如下.     

G-6-PD缺陷症患儿急性溶血时白细胞计数与病情程度的关系探讨

G-6-PD缺陷症是全世界最常见的一种遗传性红细胞酶缺陷病,在我国该病常见于华南和西南地区。本文收集我院于2000年2月～2004年5月共收治的G-6-PD缺陷症引起急性溶血性贫血64例,现报告如下。资料与方法1.临床资料64例G-6-PD缺陷症患儿,父母祖籍均为川籍,诊断符合:(1)有急性溶血的临床表现;(2)G-6-PD活性降低;(3)高铁血红蛋白还原率下降。其中男58例,女6例;年龄1月～11岁;发病季节在1～4月56例,占87.5%,5～12月8例,占12.5%;有既往史者8例,有阳性家族史者6例。病前直接进食蚕豆52例,服用解热镇痛药8例,接触樟脑丸1例,混合用药3例。全部病…     

海洋性贫血14例分析

2002年1月-12月，我院儿科共收治海洋性贫血患儿14例，占同期住院患儿的1．28％，其中4例合并G-6-PD缺陷，现对14例海洋性贫血患儿进行分析，并对其中8例进行基因分析，报告如下。     

同时存在两种溶血性贫血4例报告

我院自1989年10月至1993年2月。共收治溶血性贫血109例,其中有4例同时存在G-6-PD缺陷症伴β-地中海贫血或伴阵发性睡眠性血红蛋白尿(PNH),临床上较少见,现报告如下。     

G-6-PD缺陷症患儿急性溶血时白细胞计数与病情程度的关系探讨

G-6-PD缺陷症是全世界最常见的一种遗传性红细胞酶缺陷病，在我国该病常见于华南和西南地区。本文收集我院于2000年2月～2004年5月共收治的G-6-PD缺陷症引起急性溶血性贫血64例，现报告如下。     

G-6-PD缺陷症发生急性溶血91例报告(摘要)

G-6-PD缺陷症在我国南方各省发病较多,且是小儿贫血和新生儿黄疸的常见原因之一。我院于1984～1987年收治G-6-PD缺陷患儿因各种感染及用药后导致急性溶血91例,现报告如下。     

广东地区新生儿红细胞6-磷酸葡萄糖脱氢酶缺乏的调查

红细胞6-磷酸葡萄糖脱氢酶(G-6-PD)缺乏是一种遗传性缺陷的红细胞酶病,是新生婴儿遗传性溶血性贫血的最常见原因。已有许多调查表明,广东为红细胞G-6-PD缺乏的高发地区,其人群G-6-PD缺乏的发生率为8.65％。但国内过去均采用高铁血红蛋白(MetHb)还原试验难予正确反映红细胞G-6-PD真正活性。已有发现某些G-6-PD活性正常的其他疾病患者,其MetHb还原率减低显示假阳性。因此推测以往检出的G-6-PD缺乏者中,有否包括了假阳性。为了弄清广东地区红细胞G-6-PD缺乏的真实发生率及基因频率,我们采用了Chapman-Dern紫外分光光度法直接测定G-6-PD活性,以提供广东地区红细胞     

蚕豆病患儿父、母、子红细胞葡萄糖—6—磷酸脱氢酶活性测定的临床研究

了解蚕豆病患儿急性溶血期红细胞葡萄糖-6-磷酸脱氢酶（G-6-PD）活性变化及父、母、子同时检测G-6-PD活性对该病诊断及家系调查的意义；方法对急性溶血期蚕豆病患儿及其父母用酶学动力法测定红细胞G-6-PD活性。结果157例急性溶血期患儿G-6-PD活性低于正常143例，占91.08%（男135，女8），其中轻度减低42例、中度降低96例，重度降低5例，14例患儿急性溶血期G-6-PD活性检测结果正常，占8.92%，他们父母酶活性检测，12例母（12/14）、5例父（5/14）、3例父母（3/14）酶活性下降；157例母亲中129例G-6-PD活性下降（82.16%），其中143例男性患儿母亲中118例活性下降（82.52%）；157例父亲中53例活性下降（27.38%）；G-6-PD活性子、父、母均降低32例（20.38%），子、母降低父正常85例（54.14%）、子、父降低母正常10例（6.37%），子降低父、母正常16例（10.19%）。14例女性患儿中，父母酶活性均降低2例，为纯合子发病，2例父酶降低母酶正常，为父源性杂合子，其余10例为母源性杂合子起病。结论父母子同时检测红细胞G-6-PD活性有助于蚕豆病患儿特别对急性溶血期红细胞G-6-PD活性正常患儿的明确诊断，家系调查有助于推测患儿G-6-PD缺陷基因的遗传方式。     

Autoimmune hemolytic anemia

Objective  To study the clinico-hematological profile and treatment outcome in children suffering from auto immune hemolytic anemia (AIHA). Methods  Twelve children were diagnosed with auto immune hemolytic anemia over a period of four years. Direct antiglobulin test was positive in all the cases. Other causes of hemolytic anemia like thalassemia syndromes, hereditary spherocytosis, G6PD deficiency were excluded by appropriate tests. The children were followed up for 6 months to 4 years. Results  The age ranged from 7 mth to 9 yr with a mean age of 4.51 yr. All patients had pallor as the presenting complaint followed by splenomegaly (83.3%), jaundice (66.7%), fever (50%) and bleeding manifestations (16.7%). 9 patients had primary disease and 3 had secondary disease. Tubercular infection was seen in 2 patients with secondary disease. Jaundice was seen equally in both the groups. Oral prednisolone produced remission in 83.3% cases. 4 patients (3 in primary and one in secondary group) had relapse after initial response. All responded to a second course of steroids but had subsequent relapses and developed a chronic course. Conclusion  Autoimmune hemolytic anemia is an uncommon cause of hemolytic anemia in children. Tubercular infection is an underlying pathology in cases of secondary autoimmune hemolytic anemia. Although oral steroids induce remission in most of the cases, relapses are common.     

儿童自身免疫性溶血性贫血29 例临床特点和治疗分析

目的探讨自身免疫性溶血性贫血的病因及治疗。方法回顾分析2013年1月至2015年12月收治的29例自身免疫性溶血性贫血患儿的临床资料。结果 29例患儿中,原发性10例、继发性19例,其中11例发生于感染后。主要临床表现为面色苍白、黄疸、尿色加深及肝脾肿大,21例Coombs试验阳性。29例患儿中,肾上腺皮质激素治疗反应良好22例;治疗效果不佳7例,在联合丙种球蛋白治疗后效果良好。结论自身免疫性溶血性贫血治疗首选药物为肾上腺皮质激素,丙种球蛋白可提高疗效。     

以血液系统损害为首发症状的儿童系统性红斑狼疮

目的探讨以血液系统改变为首发或主要表现的儿童SLE的临床特点、治疗方案及预后。方法对2005年6月-2011年6月收治以血液系统改变为主并最终确诊为SLE的38例患儿进行回顾性分析。其血液学改变按白细胞改变、贫血及血小板减少进行分析,并随访6～40个月。结果本组患儿血液系统改变中贫血28例(73.7%)、白细胞改变24例(63.2%)、血小板减少15例(39.5%),距确诊SLE的平均时间为8.5(0～24)个月。针对患儿不同症状选择免疫治疗,本组30例患儿SLE基本无活动,6例轻度活动,2例中度活动,无重度活动。15例PLT减少患儿中10例恢复正常,5例PLT维持在安全水平,8例已停药观察。16例自身免疫性溶血性贫血患儿中13例未再出现溶血发作,死亡1例;另2例患儿间断有轻度溶血发作。2例SLE相关再生障碍性贫血治疗显效。1例SLE相关纯红细胞再生障碍性贫血得到有效控制。结论儿童SLE很隐匿,初期常表现为血液系统损害,值得重视,对治疗效果欠佳患儿或青春期前后女童应警惕SLE,延长随访期限,评估病情以选择治疗方案和疗程。     

Hemolytic anemia following postnatally acquired rubella during the 1975-1977 rubella epidemic in Japan

Hemolytic anemia following postnatally acquired rubella first was reported by Sato et al. in 1977. Thirteen cases of hemolytic anemia (including two cases of hemolytic uremic syndrome) following postnatally acquired rubella infection reported in a nationwide epidemic of rubella in Japan in 1975-1977 are reviewed in this article, and another case is added. Clinical symptoms of hemolytic anemia occurred 2 to 6 days from the onset of rubella rash. Direct Coombs test was positive in three of the 11 cases tested, and the indirect test was positive in two of the 13 cases. Hemolytic anemia should be considered as a complication of postnatally acquired rubella, though to date, it has only been reported in Japan.     

Autoimmune hemolytic anemia in children

The clinical and hematological profile and treatment outcome of children with warm autoimmune hemolytic anemia (AIHA) were assessed using retrospective case record analysis. There were 26 (17 idiopathic; 9 secondary) patients with a median age of 11 years. Pallor (100%), fever (39%), and jaundice (59%) were the main presenting complaints. Jaundice was much more common in idiopathic (70%) compared to secondary (44%). Direct antiglobulin test was negative in 3 patients. Oral prednisolone produced remission in 81% patients. Four patients relapsed after a median period of 7 months (2 months to 2 year) after response. All responded to a second course of steroids in median 14 days. One child required cyclosporin A in addition. No correlation was found between response and parameters such as age, sex, jaundice, low pretreatment hemoglobin, reticulocyte count, total leukocyte count, platelet count, subtype of AIHA, and hepatosplenomegaly. Relapse correlated with increased duration between the onset of symptoms and treatment. This study indicates that oral prednisolone is an effective therapy for autoimmune hemolytic anemia. In refractory cases cyclosporine A may be useful.     

小儿溶血性疾病1897例住院情况分析

本文分析了我院1978年11月～1997年1月儿科住院和溶血性疾病1897例1902人次，占同期儿科住院总人次37004的5．14％。1897例中，诊断明确的有1614例（85．08％）。其中最常见为红细胞G—6—PD缺陷症，占40．48％；血红蛋白病、新生儿ABO溶血病分别各占19．35％和16．55％。遗传性球形细胞增多症占1．06％，其它病因未明的溶血性贫血占11．65％。本组病例中，MN血型不合性溶血病及重型p地贫合并Rh血型不合、输血后溶血、重型p地贫合并自身免疫性溶血性贫血各1例。溶血性疾病发病以新生儿期为最高，占半数以上。加强对新生儿高胆溶血的研究尤其是对红细胞G——6——PD缺陷溶血发生的防治，有现实意义。     

Rituximab in Steroid Refractory Autoimmune Hemolytic Anemia

Autoimmune hemolytic anemia is rare in children and infants and steroids are the corner stone of therapy. Management of the patients with steroid refractory/dependent disease is difficult .Rituximab is being used in the treatment of a variety of autoimmune diseases including Autoimmune hemolytic anemia (AIHA),especially in adults but there is scarce data regarding the use of this agent in pediatric AIHA patients.The authors report two cases of steroid refractory AIHA, who responded to rituximab with review the literature of its use in pediatrics.     

Congenital dyserythropoietic anemia type IV in the genetic era: A rare neonatal case report of rapid identification with a review of the literature

Congenital dyserythropoietic anemia type IV (CDAIV) is a rare inherited hematological disorder, presenting with severe anemia due to altered erythropoiesis and hemolysis, with variable needs for recurrent transfusions. We present a case of a transfusion-dependent male newborn who presented at birth with severe hemolytic anemia, and required an intrauterine transfusion. Genetic testing rapidly identified a Kruppel-like factor 1 (KLF1) pathogenic variant (c.973G>A, p.E325K), known to be causative for CDAIV. This case highlights the advantages of next-generation sequencing testing for congenital hemolytic anemia: diagnostic speed, guidance on natural history, and optimized clinical management and anticipatory guidance for parents and clinicians. Additionally, we reviewed the literature for all CDAIV cases.     

Warm autoimmune hemolytic anemia following recurrent mycoplasma pneumonia infections in a child with Down syndrome

Mycoplasma pneumonia (MP) is mainly associated with cold agglutinin syndrome, whereas both cold IgM and warm IgG autoantibodies have been identified in only two cases in the literature. The authors present an 8-year-old boy with Down syndrome, who suffered from recurrent episodes of MP infection, followed by episodes of hemolytic anemia with normal titer of cold agglutinins. The first 6 episodes were sequenced by nonimmune hemolytic anemia, whereas the latter 7 episodes were followed by episodes of warm autoimmune hemolytic anemia. This is believed to be the first described case of hemolytic anemia with warm IgG autoantibodies, following MP infection.     

Autoimmune Hemolytic Anemia as an Initial Symptom in Childhood Hodgkin'S Disease

The association of lymphoproliferative disorders with autoimmune disease has been well recognized in the adult population.¹ The most common correlation of autoimmune disease and malignancy is the presence of Coombs-positive hemolytic anemia and Hodgkin's disease with a reported incidence of 2.7%.² In childhood, however, during the last 20 years less than 10 cases of Hodgkin's disease and autoimmune hemolytic anemia (AIHA) have been reported.³