Thalassaemia (part 2)

No abstract

Thrombotic disorders (part 1)

Thromboembolic conditions are the leading cause of mortality, estimated to account for 1 in 4 deaths worldwide in 2010. Over time, the incidence and mortality rates of these conditions have improved in developed countries, but are increasing in developing countries. The haemostatic system comprises 6 main components, i.e. (i) platelets; (ii) vascular endothelium; (iii) coagulation proteins; (iv) natural anticoagulants; (v) the fibrinolytic system; and (vi) natural antifibrinolytic factors. A delicate balance exists between procoagulant and anticoagulant factors within the vascular system. Numerous acquired or inherited conditions may tip the balance either way, i.e. towards a prothrombotic or prohaemorrhagic state. In this issue of CME, the first of a 2-part series on thrombophilic disorders, the subject of discussion is on inherited varieties that the general practitioner is likely to encounter. This review is primarily based on venous thrombosis

Thalassaemia (part 2): Management

The management of thalassaemia with a severe phenotype includes blood transfusion, iron chelation, bone marrow transplantation, prenatal diagnosis and national programmes to co-ordinate these in countries with a high prevalence. If blood transfusion and iron chelation therapy are not administered regularly, as was the case historically and as is still the case in many poorer regions, progressive deterioration occurs, viz. impaired growth and development, hepatosplenomegaly, bony abnormalities, cardiac failure, increased susceptibility to infections and premature mortality. Remarkable progress has been made in the past few decades, which has led to much-improved survival rates. Transfusion therapy has evolved to a hyper-transfusion regimen designed to maintain a physiological haemoglobin level and achieve a post-transfusion haemoglobin of 14 g/dL, which, as a matter of course, necessitated intensification of iron chelation. The development of effective oral iron chelators has led to improved compliance. Exploration of novel therapeutic approaches continues, with several agents under study. The prospect of gene therapy is particularly exciting as it has potential to provide cure on a large scale. Currently, regular blood transfusion and iron chelation therapy remain the cornerstone of management of thalassaemia major

A unifying framework for understanding ecological and evolutionary population connectivity

Although the concept of connectivity is ubiquitous in ecology and evolution, its definition is often inconsistent, particularly in interdisciplinary research. In an ecological context, population connectivity refers to the movement of individuals or species across a landscape. It is measured by locating organisms and tracking their occurrence across space and time. In an evolutionary context, connectivity is typically used to describe levels of current and past gene flow, calculated from the degree of genetic similarity between populations. Both connectivity definitions are useful in their specific contexts, but rarely are these two perspectives combined. Different definitions of connectivity could result in misunderstandings across subdisciplines. Here, we unite ecological and evolutionary perspectives into a single unifying framework by advocating for connectivity to be conceptualized as a generational continuum. Within this framework, connectivity can be subdivided into three timescales: (1) within a generation (e.g., movement), (2) across one parent-offspring generation (e.g., dispersal), and (3) across two or more generations (e.g., gene flow), with each timescale determining the relevant context and dictating whether the connectivity has ecological or evolutionary consequences. Applying our framework to real-world connectivity questions can help to identify sampling limitations associated with a particular methodology, further develop research questions and hypotheses, and investigate eco-evolutionary feedback interactions that span the connectivity continuum. We hope this framework will serve as a foundation for conducting and communicating research across subdisciplines, resulting in a more holistic understanding of connectivity in natural systems