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Summary: For this paper, cases reported formally and anecdotally to the authors in their screening and diagnostic roles have been selected to demonstrate areas where errors have occurred, and caution should be exercised. The cases demonstrate that it is vital that the performance and limitations of the techniques used, along with the phenotypic presentation of cases where haemoglobin variants and/or thalassaemias are coinherited are understood by those performing result interpretation. Those who deliver the service as well as those who receive reports and give results and counselling should be aware of the complexity of the topic. [ABSTRACT FROM AUTHOR]

The article lists articles in forthcoming issues on topics including sickle cell disease, acute lymphoblastic leukaemia, and autoimmune diseases.

Pre-eclampsia affects 4-5% of pregnancies worldwide and leads to increased maternal and fetal morbidity and mortality.2 Although the exact mechanisms for developing pre-eclampsia are unclear, placental ischaemia is central in its pathogenesis. Furthermore, those patients with SCD who developed pre-eclampsia had a higher proportion with >=1 VOC/year during their pregnancy compared those that did not have pre-eclampsia (78% vs. 48%). In their paper Boudhabhay I et al i . investigate risk factors and consequences of pre-eclampsia on pregnancy outcomes and kidney function in patients with sickle cell disease (SCD).1 They report that pre-eclampsia: (i) was independently associated with higher body mass index, increased haemolysis and >=1 vaso-occlusive crisis (VOC) requiring hospitalisation; (ii) led to poor maternal and neonatal outcomes and (iii) predicted a more rapid decline in kidney function and greater risk of developing chronic kidney disease (CKD) on longitudinal follow-up. [Extracted from the article]

Summary: There is a large therapeutic gap in the treatment of sickle cell disease (SCD). Recent studies demonstrated the presence of pathophysiological and microbial changes in the intestine of patients with SCD. The intestinal microbes have also been found to regulate neutrophil ageing and possible basal activation of circulating neutrophils. Both aged and activated neutrophils are pivotal for the pathogenesis of vaso‐occlusive crisis in SCD. In this paper, we will provide an overview of the intestinal pathophysiological and microbial changes in SCD. Based on these changes, we will propose therapeutic approaches that could be investigated for treating SCD. [ABSTRACT FROM AUTHOR]

In a seminal Lancet paper published in 1997, Dennis Lo, a clinical biochemist from Hong Kong working in Oxford with Jim Wainscoat, defined a technique that would transform the future of prenatal diagnosis (PND). This made it possible to simply collect a blood sample from a pregnant woman and identify unique fetal DNA characteristics from it, without needing invasive PND, which carries a 0-5-1% risk of miscarriage. To identify a fetal-origin point mutation from a sea of maternal DNA, 50% of which contain the same mutation, made it impossible to diagnose fetal disease without having access to DNA material from the father or siblings. [Extracted from the article]