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Liu D.,Southern Medical University | Zhang X.,303rd Hospital of the Peoples Liberation Army | Yu L.,Southern Medical University | Cai R.,Liuzhou Women and Children Care Hospital | And 11 more authors.
Blood | Year: 2014

Mutations in human Krüppel-like factor 1 (KLF1) have recently been reported to be responsible for increased fetal hemoglobin (HbF) and hemoglobin A2 (HbA2). Because increased HbF and HbA2 levels are important features of β-thalassemia, we examined whether there is any relationship between KLF1 mutation and β-thalassemia in China. To do this, we first studied the incidence of KLF1 mutations in 2 Chinese populations: 3839 individuals from a thalassemia endemic region in south China and 1190 individuals from a nonthalassemia endemic region in north China. Interestingly, we found that the prevalence of KLF1 mutations is significantly higher in the thalassemia endemic region than that in nonthalassemia endemic region (1.25% vs 0.08%). Furthermore, we identified 7 functional variants including 4 previously reported (p.Gly176AlafsX179, p.Ala298Pro, p.Thr334Arg, and c.91311G>A) and 3 novel variants (p.His299Asp, p.Cys341Tyr, and p.Glu5Lys) in southern China. The 2 most common mutations, p.Gly176AlafsX179 and p.His299Asp, accounted for 90.6% of the total. We found that zinc-finger mutations in KLF1 were selectively represented in 12 β-thalassemia intermedia patients and resulted in significantly different transfusion-free survival curves. Our findings suggest that KLF1 mutations occur selectively in the presence of β-thalassemia to increase the production of HbF, which in turn ameliorates the clinical severity of β-thalassemia. © 2014 by The American Society of Hematology. Source

Yu L.-H.,Southern Medical University | Liu D.,Southern Medical University | Cai R.,Liuzhou Women and Children Care Hospital | Shang X.,Southern Medical University | And 9 more authors.
Clinical Genetics | Year: 2015

Phenotypic variations in α-thalassemia mainly depend on the defective α-globin gene number. Genetic modifiers of the phenotype of Hemoglobin H (HbH) disease were poorly reported, apart from β-thalassemia allele that was identified ameliorating the severity of α-thalassemia. Because erythroid Krüppel-like factor (KLF1) mutations can modulate the red blood phenotype, we evaluated its effect on the α-thalassemia phenotype. Overall, we identified 72 subjects with five different KLF1 heterozygous mutations in 1468 individuals, including 65 out of 432 α-thalassemia carriers with fetal hemoglobin (HbF) levels ≥1%, 0 out of 310 carriers with HbF levels <1% and 7 out of 726 HbH disease patients. We firstly established the link between KLF1 mutations and relatively elevated hemoglobin A2 (HbA2) and HbF levels, along with lower mean corpuscular volume (MCV) and mean corpuscular hemoglobin (MCH) values in a group of α-thalassemia carriers. However, we concluded that KLF1 mutations were not significantly linked to HbH disease severity. On the basis of HBA or HBB genotype and gender, clinical severity of patients with HbH disease was correctly predicted in 73.3% cases. It may improve the screening and diagnostic assessment of α-thalassemia. © 2014 John Wiley & Sons A/S. Source

Wang S.,Chongqing Medical University | Fang J.,Chongqing Medical University | Zhang T.,303rd Hospital of the Peoples Liberation Army | Wang B.,Chongqing Medical University | And 4 more authors.
Journal of Neuro-Oncology | Year: 2011

Accumulating evidence suggests that endothelial progenitor cells (EPCs) play a key role in the development and infiltration of gliomas. Thus, it has been considered that EPCs may be good vehicles for delivering anti-angiogenesis genes for tumor therapy. However, limited means of tracking these cells in vivo has restricted the effective evaluation of the curative effects of genetically modified EPCs in gliomas at different stages. The aim of this study was to develop a non-invasive method to monitor the migration of EPCs to gliomas using 1.5-T MR scanning. We successfully labeled EPCs isolated from cord blood with Resovist-PLL without any influence on the biological properties of these cells. After intravenous administration into glioma-bearing nude mice, the labeled EPCs specifically homed to gliomas and could be reliably tracked by 1.5-T MR as early as 1 day after transplantation, causing a signal loss on T2-weighted images. The dark area was detected throughout the entire tumor zone on day 5, and did not develop a ring as previously described. Histological analysis showed the labeled cells were mainly located at the periphery of the tumor where abundant neovessels were identified using CD34 staining; this finding indicates that the transplanted cells may be able to differentiate into ECs and become incorporated into glioma neovasculature. These results suggested that Resovist labeling of EPCs is feasible, efficient and safe for MRI tracking, and 1.5-T MR could be a powerful method for in vivo monitoring of EPCs as an anti-angiogenic drug therapy vector targets against glioma. © Springer Science+Business Media, LLC. 2011. Source

Yin X.-L.,303rd Hospital of the Peoples Liberation Army | Wu Z.-K.,China Academy of Traditional Chinese Medicine | Zhou T.-H.,303rd Hospital of the Peoples Liberation Army | Zhou Y.-L.,303rd Hospital of the Peoples Liberation Army | And 3 more authors.
International Journal of Laboratory Hematology | Year: 2012

Introduction: To identify the clinical and hematological characteristics in a large group of patients with combined HbH disease and β-thalassemia trait. Methods: Hemoglobinopathy analysis and full genotyping identified a cohort of patients with HbH disease, β-thalassemia trait, or combined HbH disease and β-thalassemia trait. Results: Co-inheritance of β-thalassemia trait and HbH disease significantly decreased the mean corpuscular volume (MCV) in 27 patients when compared to 287 patients with HbH disease alone. The combined condition also alleviated anemia in nondeletional HbH disease but not in the deletional cases. Beta-thalassemia trait also significantly decreased the expression of HbH, Hb Constant Spring when present, and HbA2, with levels as low as 3.6% on high-performance liquid chromatography (HPLC). Conclusion: These cases, although relatively common in the South Chinese population, may be difficult do diagnose correctly when only examined on HPLC. Therefore, molecular analysis of the α and β globin genes should be done in all cases with hemolytic anemia and low MCV without clear HbH disease or β-thalassemia parameters. © 2012 Blackwell Publishing Ltd. Source

Yin X.-L.,303rd Hospital of the Peoples Liberation Army | Chen Y.-S.,303rd Hospital of the Peoples Liberation Army | Zhang X.-H.,303rd Hospital of the Peoples Liberation Army
Platelets | Year: 2011

Type I CD36 deficiency is defined by the absence of CD36 on both platelets and monocytes. Pseudothrombocytopenia (PTCP) is characterized by a false reduction in the number of platelets in ethylenediaminetetraacetic acid (EDTA)-anticoagulated blood. Here we report a rare case of concomitant CD36 deficiency and PTCP. The patient was a 7-year-old boy who suffered comminuted fractures of the left humeral condyle. In the pre-operative examination, he was found to have thrombopenia and assumed to have idiopathic thrombocytopenic purpura. After immunotherapy and platelet transfusion, the platelet count remained low, suggesting that the patient was refractory to platelet transfusion. Serum was collected for the detection of platelet antibodies, and antibodies against CD36 were found. Flow cytometry verified the absence of CD36 on both the platelets and monocytes of this patient. However, the platelet count was normal when capillary blood smears were analysed; in addition, platelet coagulation was noted under the microscope when EDTA-anticoagulated peripheral blood was used. The patient underwent surgery without platelet transfusion and recovered uneventfully. © 2011 Informa UK Ltd. Source

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