继发性铁粒幼细胞性贫血铁代谢诊断指标研究应用

[目的 ]探讨研究继发性铁粒幼细胞性贫血铁代谢状况及发病机理 ,开发铁粒幼贫血早期诊断及预防方法。 [方法 ]利用骨髓五铁 (即细胞内铁、细胞外铁、病理环铁粒幼细胞、铁粒幼细胞比率 (SR)、铁粒红细胞 ) ;血清四铁 (血清铁、总铁结合力、未饱和铁、饱和度 )上述各项指标 ,对 1 4 2 82例各种不同血液病患者进行检测。 [结果 ]原发性铁粒幼细胞贫血 30例 ;继发性铁粒幼细胞贫血93例 ,可继发于 2 0多种疾病 ,化疗后白血病 2 8例 (30 .1 % ) ;除缺铁贫外各种贫血 4 3例 (4 6 .2 % ) ;其它感染、粒细胞减少、骨髓纤维化、真性红细胞增多症 2 2例 (2 3.7% ) ;原发铁粒幼细胞贫血病理环铁粒幼细胞体积小 ,铁颗粒数目多 ,常如黄豆粒似的撒在核周围 ,病理环铁粒幼细胞数目增多 >30 % ,此点与骨髓增生异常综合症 (MDS -RAS)不同 ,该病病理环铁粒幼细胞颗粒数目少 ,并出现病态造血巨幼细胞浆带中 ,铁粒幼细胞≥ 1 5 %。[结论 ]骨髓五铁、血清四铁各项指标 ,对原发性、继发性铁粒幼细胞贫血以及MDS、RA -S的诊断、鉴别诊断、预防有重要意义 ,对输血补铁有重要价值。     

血清转铁蛋白受体在缺铁性贫血诊断中的意义

目的　探讨血清转铁蛋白受体 (sTfR)在缺铁性贫血诊断中的意义。方法　应用免疫比浊法和比色法测定缺铁性贫血患者和正常对照组的血清转铁蛋白受体 (sTfR)以及血清铁 (SI)。结果　缺铁性贫血组的sTfR值为 6.98± 2 .0 9,高于正常对照组的sTfR水平 ( 1.5 4± 0 .2 7)缺铁性贫血组的SI为 41.98± 2 .87,低于正常对照组 ( 10 4.6±18.9)缺铁性贫血患者与正常对照比较 ,P均 <0 .0 1,两者有显著性差异。结论　sTfR是诊断缺铁性贫血的较敏感的指标     

Evidence in favor of a role of idiotypic network in autoimmune hemolytic anemia induction: theoretical and experimental studies

Formation dynamics of antibodies to rat erythrocytes (REs) and auto-antibodies to mouse erythrocytes were studied in an experimental model of autoimmune hemolytic anemia (AHA) in mice. The experimental conditions of AHA were simulated in a mathematical model of an immune network. It was found that maximal production of auto-antibodies and antibodies to REs do not synchronize. Antiserum, obtained at the peak of auto-antibodies formation, competed with REs for bounding with antibodies. This represents proof that auto-antibodies to erythrocytes and antibodies to REs are an idiotype-anti-idiotypic pair. In the autoimmune reaction, the autoreactive clone, being anti-idiotypic, responded earlier than the clone reacting to the injected antigen. Comparison of autoimmune reaction kinetics in the mathematical model of an immune network with experimental dynamics of AHA shows them to be similar. So activation of the autoreactive clone to erythrocytes during experimental AHA in mice is mediated by idiotype-anti-idiotypic interactions with the clone reacting to REs.     

促红细胞生成素、叶酸、维生素B12、铁蛋白检测在缺铁性贫血诊疗中的应用分析

探讨缺铁性贫血(IDA)发病机理,为诊断、治疗、预后判断提供依据.用化学发光免疫分析法,对240例缺铁性贫血患者、30名对照者及112例IDA患者在对症治疗和口服力蜚能、生血宁治疗一个疗程(30天)前后,体内血清中促红细胞生成素(EPO)、叶酸(FA)、维生素B12(vit B12)、铁蛋白(Fer)水平变化及EPO/Fer、vit B12/ FA比值的变化进行测定,并进行统计学分析.结果表明,缺铁性贫血组与对照组比较,EPO、FA、 vit B12、EPO/Fer、vit B12/ FA有显著性差异(P<0.05～0.001),EPO、Fer水平及EPO/Fer比值变化在IDA患者治疗前后比较呈正相关(r=0.875, t=4.256,P<0.001).缺铁性贫血虽主要是由铁的供应和贮存铁缺乏引起,但与体内EPO、FA、Fer、vitB12水平变化密切相关,EPO、Fer水平及其比值变化与IDA的发生、发展、治疗和预后判断有一定关系,是诊断和鉴别IDA的重要指标.     

RPS19 mutations in patients with Diamond-Blackfan anemia

Diamond-Blackfan anemia (DBA) is an inherited disease characterized by pure erythroid aplasia. Thirty percent (30%) of patients display malformations, especially of the hands, face, heart, and urogenital tract. DBA has an autosomal dominant pattern of inheritance. De novo mutations are common and familial cases display wide clinical heterogeneity. Twenty-five percent (25%) of patients carry a mutation in the ribosomal protein (RP) S19 gene, whereas mutations in RPS24, RPS17, RPL35A, RPL11, and RPL5 are rare. These genes encode for structural proteins of the ribosome. A link between ribosomal functions and erythroid aplasia is apparent in DBA, but its etiology is not clear. Most authors agree that a defect in protein synthesis in a rapidly proliferating tissue, such as the erythroid bone marrow, may explain the defective erythropoiesis. A total of 77 RPS19 mutations have been described. Most are whole gene deletions, translocations, or truncating mutations (nonsense or frameshift), suggesting that haploinsufficiency is the basis of DBA pathology. A total of 22 missense mutations have also been described and several works have provided in vitro functional data for the mutant proteins. This review looks at the data on all these mutations, proposes a functional classification, and describes six new mutations. It is shown that patients with RPS19 mutations display a poorer response to steroids and a worse long-term prognosis compared to other DBA patients.     

The evolution of haematological and biochemical indices in HIV patients during a six-month treatment period

Objective

To assess haematological and biochemical parameters in Human Immunodeficiency Virus (HIV) patients under going antiretroviral therapy.

Methods

We enrolled HIV patients from, 18–65 years, who were under first line antiretroviral therapy and followed them for six months from February 2010 for changes in haematological and biochemical parameters. Profiles for ALAT, creatinine, amylase, cholesterol, CD4+ and total lymphocytes, haemoglobin, and monocytes were studied every three months.

Results

There was an increase of both, CD4+ lymphocyte counts from 233.57 cells/mm³ to 336.45 cells/mm³ and total lymphocytes from 45 to 46.6 10³ cells /µl, after six months. The haemoglobin level dropped from 8.8 g/L to 7.52 g/L. We observed an increase in ALAT from 40.27 to 47.42 U/L, amylase from 178.9 to 193.97 U/L, and cholesterol from 5.88 to 8.40 mmol/L. Creatinine levels decreased from 117.4 to 115.0 µmol/L.

Conclusion

The use of ARVs boosts CD4+ and total lymphocyte counts. Prolonged use of antiretroviral drugs (ARVs) is associated with variable degrees of liver and pancreatic damage, hypercholesteremia, and anaemia in some patients. Since many of these side effects are multi-factorial, management of HIV patients should take into consideration such side effects in making treatment decisions based on periodic evaluation of these parameters     

β-Globin chain abnormalities with coexisting α-thalassemia mutations

Introduction

The frequency of hemoglobinopathies is still high in Adana, the biggest city of the Cukurova Region that is located in the southern part of Turkey. Our aim was to identify the concomitant mutations in α- and β-globin genes which lead to complex hemoglobinopathies and to establish an appropriate plan of action for each subject, particularly when prenatal diagnosis is necessary.

Material and methods

We studied the association between the β-globin gene and α-thalassemia genotypes. The reverse hybridization technique was employed to perform molecular analysis, and the results were confirmed by amplification refractory mutation system (ARMS) or restriction fragment length polymorphism (RFLP) technique.

Results

We evaluated 36 adult subjects (28 female and 8 male; age range: 18-52 years) with concomitant mutations in their α- and β-globin genes. The –α^3.7/αα deletion was the commonest defect in the α-chain as expected, followed by α^3.7/–α^3.7 deletion. Twenty-five of 36 cases were sickle cell trait with coexisting α-thalassemia, while seven Hb S/S patients had concurrent mutations in their α-genes. The coexistence of α^PolyA-2α/αα with Hb A/D and with Hb S/D, which is very uncommon, was also detected. There was a subject with compound heterozygosity for β-globin chain (–α^3.7/αα with IVSI.110/S), and also a case who had –α^3.7/αα deletion with IVSI.110/A.

Conclusions

Although limited, our data suggest that it would be valuable to study coexisting α-globin mutations in subjects with sickle cell disease or β-thalassemia trait during the screening programs for premarital couples, especially in populations with a high frequency of hemoglobinopathies.     

用1升全血中平均血红蛋白密度鉴别诊断缺铁性贫血和地中海贫血特征

目的探讨1升全血中平均血红蛋白密度(MDHLWB)鉴别诊断缺铁性贫血(IDA)和地中海贫血特征(TT)的临床价值。方法根据物理学"密度"的概念建立了一个新的红细胞参数MDHLWB[MDHLWB=(MCH/MCV×10-3)×RBC计数]。随机选取经血液表型分析诊断的150例IDA和166例TT成年病例,用ROC曲线分析确定MDHLWB鉴别诊断TT和IDA的cutoff值。以分子诊断并结合铁代谢指标分析作为金标准,将MDHLWB和文献报道的IDA和TT鉴别诊断指标用于296例临床小细胞低色素贫血个体的鉴别诊断以评估MDHLWB的临床应用价值。结果 MDHLWB鉴别成年男、女IDA与TT的最佳cutoff值分别为男1.736和女1.493。MDHLWB诊断TT的敏感性(SE)、特异性(SP)、阳性预测值(PPV)、阴性预测值(NPV)、诊断效率(EDF)和约登指数(Youden’s index,YI)分别为96.32%、90.98%、92.90%、95.28%、93.92%和0.873,优于其他鉴别诊断指数。结论 MDHLWB可快速、有效地鉴别诊断单纯性的IDA和TT。