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Blood Cells, Molecules, and Diseases

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  1. Filterability of freshly-collected sickle erythrocytes under venous oxygen pressure without exposure to air

    Blood Cells, Molecules, and Diseases 55(4):328 (2015) PMID 26460256

    We previously found that blood samples collected from steady-state patients with sickle cell disease (SCD) without exposure to air contain a new type of reversibly sickled cells (RSCs) with blunt edges at a level of as high as 78%. Since partial oxygenation of once-deoxygenated sickled...
  2. Calreticulin mutation burden — Is it a stable clone in patients with essential thrombocythemia and myelofibrosis?

    Blood Cells, Molecules, and Diseases 55(4):281 (2015) PMID 26460248

    Calreticulin mutation represents the second most frequent mutation after JAK2 V617F in myeloproliferative disorder and is considered to be a driving mutation. Herein the mutation burden was evaluated in patients with essential thrombocythemia or myelofibrosis and found to increase by 5...
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    Blood Cells, Molecules, and Diseases 55(4):IFC (2015)

  4. Clinical features and molecular basis of 102 Chinese patients with congenital dysfibrinogenemia

    Blood Cells, Molecules, and Diseases 55(4):308 (2015) PMID 26460252

    Introduction Congenital dysfibrinogenemia (CD) is a rare qualitative disorder of fibrinogen (Fg) with heterogeneous clinical manifestations. We aimed to analyze clinical phenotype and molecular basis of 102 Chinese CD patients and to evaluate the application of thromboelastog...
  5. Effect of deferasirox on iron overload in patients with transfusion-dependent haemoglobinopathies

    Blood Cells, Molecules, and Diseases 55(4):382 (2015) PMID 26460263

    Background Patients with haematopoietic disorders requiring long-term blood transfusions are at risk of iron overload. This study aimed to investigate the efficacy and safety of long-term deferasirox monotherapy in patients with transfusion-dependent anaemia in the routine cl...
  6. TR2/TR4 overexpression in a humanized sickle cell disease mouse model decreases RBC adhesion to VCAM-1

    Blood Cells, Molecules, and Diseases 55(4):316 (2015) PMID 26460253

  7. A founder effect for p47phoxTrp193Ter chronic granulomatous disease in Kavkazi Jews

    Blood Cells, Molecules, and Diseases 55(4):320 (2015) PMID 26460255

    Chronic granulomatous disease (CGD) is a rare congenital immune deficiency caused by mutations in any of the five genes encoding NADPH oxidase subunits. One of these genes is NCF1, encoding the p47phox protein. A group of 39 patients, 14 of whom are of Kavkazi Jewish descent, was inves...
  8. Diagnostic pitfalls of less well recognized HbH disease

    Blood Cells, Molecules, and Diseases 55(4):387 (2015) PMID 26460264

    HbH disease had been introduced as a mild anemia disease. It recently has become the most challenging hemoglobinopathy due to the increasingly described genotype patterns and very variable phenotypic presentations in different ethnics. Phenotypic severity of HbH syndrome is not simply ...
  9. Klotho, a new marker for osteoporosis and muscle strength in β-thalassemia major

    Blood Cells, Molecules, and Diseases 55(4):396 (2015) PMID 26460265

    Aim of this study was to compare plasma levels of the secreted protein Klotho in β-thalassemia major patients and in healthy controls. Also, we examined the existence of correlations between the protein level and osteoporosis, poor muscle strength and fractures. A total of 106 patients...
  10. Corrigendum to “ApoptomiRs expression modulated by BCR–ABL is linked to CML progression and imatinib resistance” [Blood Cells Mol. Dis. 53 (1–2) (June–August 2014) 47–55]

    Blood Cells, Molecules, and Diseases 55(4):420 (2015)