生血宁片治疗维持性血液透析患者贫血的临床观察

目的比较生血宁片和多糖铁复合物胶囊两种口服铁剂在治疗维持性血液透析患者肾性贫血中的治疗效果。方法 2008年12月2010年6月间选择40例维持性血液透析贫血患者,随机分为生血宁片组和多糖铁复合物胶囊组,每组20例,观察期为8周。分别检测两组患者用药前及用药后4、8周时血红蛋白、红细胞压积、血清铁蛋白、转铁蛋白饱和度等指标情况。同时两组患者均使用基因重组人促红细胞生成素,按100～120U/（kg.周）,分两次皮下注射。结果治疗前两组指标无明显差异,治疗后两组患者的血红蛋白、红细胞压积、血清铁蛋白以及转铁蛋白饱和度较治疗前均显著上升,且两组患者升高的幅度相比,生血宁组升高的幅度更显著。治疗结束时,两组患者不良反应方面的差异无统计学意义。结论两种口服铁剂均能有效地纠正血液透析患者的铁缺乏及贫血状况;生血宁片组的作用更显著,且还具备降低患者促红细胞生成素使用量的作用。     

Chronic eosinophilic leukemia presenting with autoimmune hemolytic anemia and erythrophagocytosis by eosinophils

Eosinophils function primarily as secretory cells and phagocytosis by eosinophils is rarely seen. We describe a case of chronic eosinophilic leukemia (CEL) in a 72-year-old male with a history of previously treated non-Hodgkin's lymphoma (NHL) presenting with erythrophagocytosis by eosinophils and an associated autoimmune hemolytic anemia (AIHA). This patient did not show evidence of relapsed NHL. The patient's blood showed a markedly elevated eosinophil count of 16 x 10(9)/L [normal 0-0.45 x 10(9)/L] on a background of myelodysplasia and features of AIHA. Prominent erythrophagocytosis by eosinophils was visualized in the blood and in the bone marrow. Numerous Charcot-Leyden crystals were also seen in the bone marrow amid increased numbers of eosinophils and the presence of dysplastic granulopoiesis. AIHA is rarely described in the setting of CEL. More significantly, this represents the first case report to describe erythrophagocytosis by eosinophils.     

A case of myelodysplastic syndrome with erythroid hypoplasia associated with a familial translocation t(3;14)(p21.1;q24.1)

Myelodysplastic syndrome (MDS) with erythroid hypoplasia, a rare form of MDS, has not yet been clearly defined. We report here a 20-year-old woman with severe transfusion-dependent anemia and reticulocytopenia. White blood cells and platelet counts were normal. Bone marrow examination showed a low percentage of erythroid precursors (6%) and a marked dyserythropoiesis and dysmegakaryopoiesis. A diagnosis of MDS (refractory anemia according to the FAB classification) with erythroid hypoplasia was made. Cytogenetic analysis of the bone marrow and peripheral blood revealed a 46,XX,t(3;14)(p21.1;q24.1) translocation, which was confirmed by fluorescence in situ hybridization analysis. This translocation was detected in the apparently healthy younger brother, father, and aunt (father's sister) of the patient. Clonality of T cells in the patient was not confirmed by the polymerase chain reaction and heteroduplex temperature-gradient gel electrophoresis. IgM serology for B19 parvovirus was negative. Other conditions known to be associated with erythroid hypoplasia, such as thymoma, were not present. The patient failed to respond to immunosuppressive therapy (antithymocyte globulin and cyclosporin A). Administration of recombinant human erythropoietin improved her anemia. To our knowledge, this balanced translocation, namely t(3;14)(p21.1;q24.1), which is present both in the patient with MDS with erythroid hypoplasia and in the healthy members of the family, has not been defined previously.     

Transcriptosome and serum cytokine profiling of an atypical case of myelodysplastic syndrome with progression to acute myelogenous leukemia

A Native American-Indian female presenting with anemia and thrombocytosis was diagnosed with myelodysplastic syndrome (MDS, refractory anemia). Over the course of 5 years she developed cytopenias and periods of leukocytosis with normal bone marrow (BM) blast counts, features of an unclassifiable MDS/MPS syndrome. The patient ultimately progressed to acute myelogenous leukemia (AML, FAB M2) and had a normal karyotype throughout her course. The episodes of leukocytosis were associated with infectious complications. Transformation to AML was characterized by a BM blast percentage of 49%. Peripheral blood and BM samples were obtained for serum protein analysis and gene expression profiling (GEP) to elucidate her disease process. An ELISA assay of the serum analyzed approximately 80 cytokines, which demonstrated that hepatocyte growth factor/scatter factor and insulin-like growth factor binding protein 1 were markedly elevated compared to normal. GEP demonstrated a unique "tumor molecular profile," which included overexpression of oncogenes (HOXA9, N-MYC, KOC1), proliferative genes (PAWR, DLG5, AKR1C3), invasion/metastatic genes (FN1, N-CAM-1, ITGB5), pro-angiogenesis genes (c-Kit), and down regulation of tumor suppressor genes (SUI1, BARD1) and anti-apoptotic genes (PGLYRP, SERPINB2, MPO). Hence, a biomics approach has provided insight into elucidating disease mechanisms, molecular prognostic factors, and discovery of novel targets for therapeutic intervention.     

A novel initiation codon mutation in the ribosomal protein S17 gene (RPS17) in a patient with Diamond‐Blackfan anemia

Diamond‐Blackfan anemia (DBA) is an inherited bone marrow failure syndrome characterized by pure red cell aplasia, various congenital anomalies, and cancer predisposition. We report a novel mutation in the RPS17 gene in a Korean patient with DBA. The mutation occurred in the translation initiation codon, changing Atg to Gtg (c.1A>G), thus disrupting the natural start of the RPS17 protein biosynthesis. This is the third case of DBA from a RPS17 mutation in the literature and is the second case of a RPS17 mutation in the translation initiation codon, following c.2T>G. Pediatr Blood Cancer 2010;54:629–631. © 2009 Wiley‐Liss, Inc.     

The diagnostic dilemma of congenital unstable hemoglobinopathies

Unstable hemoglobin variants represent a rare etiology of congenital hemolytic anemia. Without a high index of suspicion, plus proper laboratory testing and interpretation, the correct diagnosis can be elusive. We report on five children who were initially thought to have other congenital disorders such as hereditary spherocytosis or thalassemia, before β‐globin gene sequencing led to the definitive diagnosis. Recognizing the variable clinical presentation and laboratory data reported will aid clinicians in diagnosis of unstable hemoglobins variants in children with atypical forms of hemolytic anemia, particularly those with low pulse oximetry values or whose hemoglobin electrophoresis suggest β‐thalassemia trait. Pediatr Blood Cancer. 2010;55:1393–1395. © 2010 Wiley‐Liss, Inc.     

Trimethoprim‐induced immune hemolytic anemia in a pediatric oncology patient presenting as an acute hemolytic transfusion reaction

A 10‐year‐old male with acute leukemia presented with post‐chemotherapy anemia. During red cell transfusion, he developed hemoglobinuria. Transfusion reaction workup was negative. Drug‐induced immune hemolytic anemia was suspected because of positive direct antiglobulin test, negative eluate, and microspherocytes on smear pre‐ and post‐transfusion. Drug studies using the indirect antiglobulin test were strongly positive with trimethoprim and trimethoprim–sulfamethoxazole but negative with sulfamethoxazole. The patient recovered after discontinuing the drug, with no recurrence in 2 years. Other causes of anemia should be considered in patients with worse‐than‐expected anemia after chemotherapy. Furthermore, hemolysis during transfusion is not always a transfusion reaction. Pediatr Blood Cancer. 2010;55:1201–1203. © 2010 Wiley‐Liss, Inc.     

再生障碍性贫血的诊断治疗进展

随着分子生物学技术的发展,有关再生障碍性贫血(再障)的研究热点转向细胞遗传学,着力于探讨染色体及基因异常对再障的疗效影响.研究发现特定染色体及基因异常会对再障预后的诊断产生影响.另一方面,再障的首选治疗仍是根据不同情况选择免疫抑制治疗或骨髓移植,针对T细胞的特异性抗体正在研究中且疗效肯定.通过完善诊断分型和发展治疗手段,再障患者的生存率将继续提高.