The full costs of treating patients with inherited disorders of haemoglobin is extremely variable among countries depending on different health care systems, varying methods of obtaining blood, different practices in screening for blood pathogens and different costs of drugs and equipment. It is evident that all countries would benefit from the sharing of experience and expertise in order to harmonize and optimize the quality of treatment as much as possible. The need for management guidelines for Transfusion Dependent Thalassaemias (TDT) is clear. Throughout the past four years, six major TDT management guidelines became available for use by thalassaemia care givers (TIF, US, Canadian, UK, Italian and Australian Guidelines). A comparison among those guidelines has been recently published (Musallam KM et al. Acta Haematologica 2013). In light of a swiftly evolving evidence, the need for revisiting and updating TDT management recommendations remains crucial. More importantly, ensuring access to such guidelines and careful application and implementation should only help arriving at early diagnosis of morbidity to allow prompt and effective management. It would also allow early prediction of risk and would enable preventive measures to be set in place saving unnecessary health care costs.This updated third edition of the TIF guidelines will offer valuable information to all allied healthcare professionals involved in the treatment of patients with TDT. It includes updated information on new approaches for more effective, safe and less laborious treatment, and an overview of the progress achieved to date towards a total cure using methods such as gene therapy and stem cell transplantation.

Guidelines for the Management of Transfusion Dependent Thalassaemia (TDT)

Platelet activation in patients with sickle disease, hemolysis-associated pulmonary hypertension, and nitric oxide scavenging by cell-free hemoglobin

Vascular complications after splenectomy for hematologic disorders

Hemolysis in sickle cell mice causes pulmonary hypertension due to global impairment in nitric oxide bioavailability

This book is a completely revised new edition of the definitive reference on disorders of hemoglobin. Authored by world-renowned experts, the book focuses on basic science aspects and clinical features of hemoglobinopathies, covering diagnosis, treatment, and future applications of current research. While the second edition continues to address the important molecular, cellular, and genetic components, coverage of clinical issues has been significantly expanded, and there is more practical emphasis on diagnosis and management throughout. The book opens with a review of the scientific underpinnings. Pathophysiology of common hemoglobin disorders is discussed next in an entirely new section devoted to vascular biology, the erythrocyte membrane, nitric oxide biology, and hemolysis. Four sections deal with and thalassemia, sickle cell disease, and related conditions, followed by special topics. The second edition concludes with current and developing approaches to treatment, incorporating new agents for iron chelation, methods to induce fetal hemoglobin production, novel treatment approaches, stem cell transplantation, and progress in gene therapy.

Disorders of hemoglobin: Genetics, pathophysiology, and clinical management, second edition

The pathogenesis of pulmonary hypertension (PAH), a serious complication in thalassemia, is not well understood. Thromboembolism has been postulated as one of the causative factors; however, there are currently limited specific data on its role. To examine whether increased platelet activation and hypercoagulability are linked to PAH, 25 beta-thalassemia major and beta-thalassemia intermedia patients were evaluated with Doppler echocardiograms for estimation of pulmonary artery pressure and with laboratory assays for indications of a prothrombotic state. The association of clinical variables and abnormal coagulation assays with PAH was determined. PAH was identified in 17 (68%) patients; mean pulmonary artery systolic pressure was 39.8 +/- 5.4 mm Hg. PAH was significantly associated with prior splenectomy, older age, and evidence for chronic hemolysis, diagnosed in both transfused (n = 10) and nontransfused (n = 7) patients. Increased platelet activation, measured by P-selectin, was significantly associated with PAH (P = 0.001). Increased thrombin-antithrombin III level was more prevalent in the presence of PAH, but increased fibrinolysis or low protein C levels were not. This study underscores the role of platelet activation in the development of PAH and stresses its occurrence even among patients who are regularly transfused, especially those who are older and have had splenectomies.

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Papers

Pulmonary hypertension in thalassemia: association with platelet activation and hypercoagulable state.