铁粒幼细胞性贫血1例

患儿 ,男 ,1 0岁 ,因面色苍白 1 0年 ,咳嗽 1 0天 ,发热 3天于 2 0 0 1年 3月 1 8日入院。患儿自生后 3个月即出现进行性面色苍白 ,Ｈｂ波动于 60～ 80ｇ/Ｌ ,曾多次输血治疗。患儿母亲 1 0年前怀孕时无明显诱因出现严重贫血 ,Ｈｂ最低时为 2 2ｇ/Ｌ ,骨髓检查发现大量环形铁粒幼细胞 ,血清铁、铁饱和度升高 ,诊为铁粒幼细胞性贫血 ,但未予特殊治疗 ,产后自行好转 ,现Ｈｂ已达 1 2 0ｇ/Ｌ。入院查体 :神清 ,重度贫血貌 ,皮肤黏膜无出血点 ,双肺呼吸音粗糙 ,无干湿罗音闻及 ,心率 1 1 0次 /分 ,心前区可闻及 3/ 6级收缩期杂音 ,无传导 ,腹平…     

铁粒幼细胞明显增多24例追踪分析

铁粒幼细胞性贫血的诊断标准是 :骨髓涂片中环形铁粒幼细胞的比例在５ %～１５ %以上。然而 ,自１９８４年以来 ,笔者在骨髓实验室检查中先后发现有２４例贫血病人 ,在其骨髓涂片中病理性铁粒幼细胞明显增多 ,而环形铁粒幼细胞却在２%以下 ,有大部分病例甚至找不到环形铁粒幼细胞 ,为此 ,笔者对该２４例病例进行了追踪观察。１病例与方法１．１病例因贫血入住我院的住院病人２４例 ,年龄１５～７２岁 ,平均４３岁 ,女１４例 ,男１０例。经门诊补铁等一般治疗无效后 ,收入住院治疗 ,贫血时间从数月到数年不等。１．２方法２４例病人测定了血…     

铁粒幼细胞贫血家系一个新的ALAS2基因突变

目的：确定一个铁粒幼细胞贫血家系是由于ＡＬＡＳ２基因突变所致。方法用聚合酶链反应扩增Ｘ染色体上与ＡＬＡＳ２距离小于１．７Ｍｂ的微卫星ＤＸＳ９９１和ＤＸＳ１１９９,用变性凝胶电泳进行了３代家族成员９个（包括第２代２例患）的单体型分析;克隆患以及正常人ＡＬＡＳ２基因的ｃＤＮＡ全部编码区,并测序比较。结果该家系２例先证都从母亲获得同一ＡＬＡＳ２等位基因。健康史、妹２人编码区,并测序比较。结果该家系     

铁粒幼细胞性贫血伴急性心肌梗死1例报告并文献复习

目的：报告1例铁粒幼细胞性贫血伴急性心肌梗死的少见病例的诊治过程。方法：病例分析及文献复习。结果：患者面色苍白、疲乏头晕2a余，一直误诊为“缺铁性贫血”，服用“补血药”无效，后出现急性心肌梗死急诊入院。经骨髓铁染色、铁蛋白等检查，确诊为铁粒幼细胞性贫血，给予低分子肝素抗凝、硝酸甘油及大剂量维生素B6等治疗病情稳定痊愈出院。结论：铁粒幼细胞性贫血属少见病，很容易与同为低血色素贫血的缺铁性贫血、地中海贫血相混而误诊，如果误补铁过多则更容易加重心脏铁负荷。所以，对低血色素贫血患者要及时做骨髓铁染色．对冠心病合并铁粒幼细胞性贫血患者，除扩冠、抗凝外还需祛铁治疗。     

难治性贫血与巨幼细胞贫血细胞形态学差异分析

难治性贫血（MOS-RA）与巨幼细胞贫血（MA）均可表现为病态造血,形态学有相似之处,改变繁杂多变。容易混淆,细胞形态学往往不易明确诊断但预后不同。现对两者血象、骨髓象形态特点分析如下。     

35例巨幼红细胞性贫血的细胞形态学探讨

３５例巨幼红细胞性贫血的细胞形态学探讨浙江绍兴市第二医院（３１２０００）蒋志相浙江医科大学附属二院（杭州３１０００９）卢兴国巨幼红细胞性贫血（ＭＡ）是一类变化较多的贫血。临床和实验室常把它误诊为再生障碍性贫血（ＡＡ）、骨髓异常增生综合征（ＭＤＳ）或溶...     

老年入全血细胞减少巨幼细胞贫血46例临床分析

巨幼细胞贫血（简称巨幼贫）是由于叶酸（FA）和（或）维生素B12（VitB12）缺乏导致DNA合成障碍的一种大细胞贫血，多见于婴幼儿，妊娠期妇女，有关老年巨幼贫报道不多。现将我院1998～2005年间符合巨幼细胞贫血诊断标准，46例住院确诊的老年巨幼贫患者的临床资料总结分析如下。     

难治性贫血与巨幼细胞性贫血的形态学比较分析

目的比较难治性贫血与巨幼细胞性贫血的形态学特征。方法对34例难治性贫血和42例巨幼细胞性贫血的血象、外周血涂片、骨髓象进行分析。结果虽然两者粒细胞、红细胞、巨噬细胞三系均有异常增生,但难治性贫血的细胞病态改变在数量上超过巨幼细胞性贫血(MA),巨幼细胞贫血的细胞巨幼变程度和数量大于难治性贫血。结论骨髓增生异常综合征-难治性贫血(MDS-RA)与MA形态学既有相似性,又各具特征,需综合分析以防误诊。     

巨幼细胞性贫血29例治疗分析

目的：探讨巨幼细胞性贫血（MA）的血象和骨髓象特点及治疗效果。方法：分析29例MA患者的实验室资料，给予叶酸及维生素B12治疗并观察其疗效。结果：患者外周血三系细胞减少16例。骨髓各系细胞均有不同程度巨幼样改变。经叶酸及维生素B12治疗后外周血三系细胞有不同程度恢复，有效病例23例，部分有效6例。结论：MA多数表现为三系细胞减少，骨髓巨幼样变多见。叶酸及维生素B12治疗效果明显。     

营养性巨幼细胞贫血误诊为溶血性贫血5例分析

现将我院曾被误诊为溶血性贫血(溶贫)的巨幼贫患者5例分析如下。1 临床资料 本组均符合巨幼贫的诊断标准,男3例,女2例。年龄29～78岁。5例均有头昏、乏力、心悸、纳差、巩膜黄染等表现。     

Morphocytochemical characteristics of hemopoietic cells in sideroblastic anemia]

The findings of morphocytochemical and cytogenetic examinations of hemopoietic cells in 8 patients with sideroblastic anemia are analyzed. The authors consider that the final diagnosis of sideroblastic anemia can be made if the count of ring-shaped sideroblasts surpasses 30%. The leukemic nature of this condition is discussed.     

Acquired alteration in the expression of blood groups in a patient with sideroblastic anemia and chronic renal failure

A patient with well-differentiated lymphocytic lymphoma in remission presented with renal failure, sideroblastic anemia, and an acquired diminution in the expression of A antigen on his red cells. Other red cell antigens (H, M, i, and I) also were expressed weakly. Lewis antigen was expressed only in secretions. The diminished expression of the A antigen could not be accounted for by diminution in the specific glycosyl transferases responsible for its expression, since the activity in the serum of both the H enzyme (alpha 1 leads to 2 fucosyltransferase) and the A enzyme (alpha 1 leads to 3 N-acetylgalactosaminyltransferase) was not diminished. When sialic acid was removed by enzymatic treatment, the expression of the A and i antigens was augmented markedly, suggesting that the sialic acid may have altered the expression or detection of the antigens. This abnormality was probably related to dysplasia of the bone marrow which was otherwise manifest by ringed sideroblasts, unsegmented megakaryocytes, and diminished growth in vitro.     

Association of HLA-linked hemochromatosis with idiopathic refractory sideroblastic anemia.

Five of seven patients with idiopathic refractory sideroblastic anemia carried an HLA-A3 alloantigen (relative risk, 7.3; P = 0.02). The significance of this association was strengthened by study of two pedigrees. An abnormality in iron metabolism was found in two siblings who had an HLA-A3,B14 haplotype in common with the first proband. A second proband with idiopathic refractory sideroblastic anemia had clinically manifest hemochromatosis. His brother had clinically manifest hemochromatosis but not sideroblastic anemia. This proband and his brother shared only the HLA-A3,B12 haplotype. Our findings infer that patients with idiopathic refractory sideroblastic anemia carry a single allele for hemochromatosis, that this allele accounts for the increased iron loading in this form of anemia, and that clinically manifest hemochromatosis may develop in an occasional patient with only one allele for hemochromatosis in the presence of the sideroblastic factor.     

从再生障碍性贫血患者检出阵发性睡眠性血红蛋白尿症异常细胞的观察

目的：探讨在再生障碍性贫血（再障）患者中检出阵发性睡眠性血红蛋白尿症（ＰＮＨ）异常细胞的发生率。方法：用荧光标记的抗ＣＤ５９抗体，以流式细胞仪检测缺失ＣＤ５９的异常细胞。结果：１０名正常人骨髓单个核细胞及外周血红细胞和中性粒细胞的ＣＤ５９标记率均＞９５％。２３例再障患者中约２／３标记率正常，另外１／３患者的标记率有不同程度的减低。结论：该法是从再障患者检出少量ＰＮＨ异常细胞的良好手段，可用以早期发现再障－阵发性睡眠性血红蛋白尿症综合征。