Blood reviews
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Injury is the leading cause of death in young people and a major cause of loss of years of productive life world wide. Acute surgical care can prevent injury from turning into disability or death but requires prompt access to safe blood products to support resuscitation and restorative surgical procedures. ⋯ Safety and diagnostic support are critical in the post-resuscitative period where transfusion complications can delay reconstructive surgery and prolong intensive care unit stays. This paper reviews the epidemiology of injury and modern patterns of trauma care against the background of developing knowledge about the coagulopathies of trauma and blood safety.
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Spontaneous intracerebral haemorrhage is one of the most feared complications of long-term anticoagulation. Warfarin therapy not only increases the likelihood of suffering an intracranial haemorrhage, but also increases the mortality associated with it. ⋯ The specific management of patients with prosthetic heart valves is also discussed. A summary of current societal guidelines is also included, as are some key practice points.
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Idiopathic erythrocytosis is an uncommon disease, and is defined by an increase in red blood cell mass. The differential diagnosis of erythrocytosis is extensive, and can be divided into primary and secondary forms. Primary erythrocytoses are due to intrinsic defects in erythroid precursor cells and are characterized by low erythropoietin levels. ⋯ A distinct subset of secondary erythrocytoses are due to genetic mutations in key proteins of the oxygen-sensing pathway. These proteins constitute the core molecular machinery of oxygen-sensing with respect to red blood cell control. Apart from assigning physiologic roles for these proteins, studies of these rare mutations have (i) revealed the exquisite sensitivity of this pathway to genetic perturbations, (ii) highlighted important functional regions of the proteins, and (iii) provided a basis for potentially targeting this pathway for therapeutic benefit.
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Iron overload diseases of genetic origin are an ever changing world, due to major advances in genetics and molecular biology. Five major categories are now established: HFE-related or type1 hemochromatosis, frequently found in Caucasians, and four rarer diseases which are type 2 (A and B) hemochromatosis (juvenile hemochromatosis), type 3 hemochromatosis (transferrin receptor 2 hemochromatosis), type 4 (A and B) hemochromatosis (ferroportin disease), and a(hypo)ceruloplasminemia. ⋯ The combination of magnetic resonance imaging (for diagnosing visceral iron overload) and of genetic testing has drastically reduced the need for liver biopsy. Phlebotomies remain an essential therapeutic tool but the improved understanding of the intimate mechanisms underlying these diseases paves the road for innovative therapeutic approaches.
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Hematopoietic stem cell transplantation (HSCT) remains the only curative option for patients with thalassemia. Current results of transplantation in patients aged less than 17 years from matched related donors offer 80% to 87% probability of cure according to risk classes. Adult thalassemics treated with myeloablative conditioning continue to have inferior results because of their advanced stage of disease. ⋯ Mixed chimerism is a common phenomenon after transplantation and is a risk factor for rejection. Ex-thalassemics still carry the clinical complications acquired during years of transfusion and chelation therapy. Longer follow-up and management of these complications in ex-thalassemics are essential.