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Myeloproliferative neoplasms (MPN) are a group of clonal hematopoietic stem cell disorders characterized by well-known driver mutations [1]. The mutational status of Janus kinase 2 (JAK2), calretic...

Myelodysplastic Syndromes (MDS) are a heterogeneous group of acquired clonal bone marrow disorders, characterised by ineffective hematopoiesis. The mechanisms underlying many of these blood disorders have remained elusive due to the difficulty in pinpointing specific gene mutations or haplo-insufficencies, which can occur within large deleted regions. However, there is an increasing interest in the classification of some of these diseases as ribosomopathies. Indeed, studies have implicated Ribosomal Protein (RP) S14 as a strong candidate for haploinsufficiency in 5q- syndrome, a particular form of MDS. Recently, two novel mouse models have provided evidence for the involvement of both RPS14 and the p53 pathway, and specific miRNAs in 5q- syndrome. In this review we will discuss: 5q- syndrome mouse models, the possible mechanisms underlying this blood disorder with respect to the candidate genes and comparisons with other ribosomopathies and the involvement of the p53 pathway in these diseases.

There has been a widespread belief that genetic disorders are of little importance inlow income countries, an opinion that is perhaps understandable given the often dauntingprevalence of infectious diseases and nutritional problems faced by these populations.The failure to recognize genetic disorders as significant contributors to the overall diseaseprofile of low income countries is, however, a serious error. For example, an estimated7.6 million children are born per year with a severe congenital or genetic disorder (Alwanand Modell 2003), and one in seven of the world’s population are carriers of a haemoglobindisorder (WHO 2002). In both cases a large majority of those affected are resident inlow income countries, which currently comprise over 80% of the global population(PRB 2004). There is also convincing preliminary evidence that some sub-populations aregenetically predisposed to contract serious infectious diseases, including tuberculosis andleprosy (Pitchappan 2002). Further, because of the requirement to treat -thalassaemiamajor individuals with regular blood transfusions, in 2003 Thalassaemia InternationalFederation estimated that 30–80% of all cases worldwide were infected with hepatitis Band/or hepatitis C, a testament to the lack of adequate blood screening facilitiesin low income countries. Thus the contribution of genetic disorders to global populationdisease profiles, directly and indirectly, is of major significance.The aim of the conference Genetics and Population Health, from which the presentcollection of papers was selected, was to review the current global prevalenceand distribution patterns of genetic disease. The 17 invited papers are presented in fivesections:(1) Haemoglobin disorders as a paradigm of genetic disease;(2) Population genetic structure as affected by migration, marriage preference andsubdivision;(3) Medical and community genetics in countries with different resource bases andreligious influences

Chronic neutrophilic leukemia (CNL) is a rare clonal myeloproliferative neoplasm that was first described in 1920 by Tuohy [1]. It typically occurs in elderly patients, equally in males and females...

Prior to European settlement indigenous Australians were hunter-gatherers who lived in geographically isolated small clan groups, also separated by elaborate totemic rules. Today they still reside in isolated communities throughout Australia but many have moved to the cities. They share a high incidence of a range of health problems including cardiovascular disease, renal disease and infectious diseases largely attributed to a change to a more sedentary lifestyle. This paper reviews the haematology of indigenous Australians, including blood count, frequency and causes of anaemia, inherited risk factors for thrombophilia, blood groups and the incidence and types of haematological malignancies. There are some significant genetic differences between indigenous and non-indigenous Australians particularly in the frequency of blood groups, factor V Leiden and prothrombin mutations and presence of -alpha3.7 kb thalassaemia. These findings may have practical therapeutic implications (e.g. HPA phenotype for transfusion therapy and pregnancy risk) and in predicting disease risk. Other differences are acquired, related to lifestyle and living conditions (e.g. eosinophilia secondary to parasitic infections; iron and folate deficiencies), and are largely preventable.

Anaplastic large cell lymphoma (ALCL) is a T-cell lymphoma in which the majority of patients present with advanced stage III or IV disease. Here we report a case of ALCL where bone marrow was the only site of disease, in a 60-year-old man with pyrexia and pancytopenia. The diagnosis of ALCL was made on detection of CD30-positive anaplastic cells in the bone marrow, together with prominent hemophagocytosis. Genetics confirmed the clonal nature of the disease and showed it to be anaplastic lymphoma kinase (ALK) negative. Primary isolated bone marrow ALCL should be considered in the diagnosis of pancytopenia associated with hemophagocytosis.