African nursing journal

An article published in International Journal of Africa Nursing Sciences provides an integrative review of 63 references related sickle cell disease among children in Africa, focussing on the incidence, prevalence, morbidity, and mortality; current practices and challenges related to screening, diagnosis, and treatment. From this data the authors also provide recommendations for practice, policy, and research to improve health outcomes of children with sickle cell disease in Africa.

More information: Open-access article, Orphanews

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Pharmacological reactivation of the γ-globin gene for the production of foetal haemoglobin (HbF) is a very promising therapeutic avenue for β-thalassaemia. Increased production of γ-globin can ameliorate the symptoms of the disease by partly substituting the non-functional β-globin gene, and restoring the balance between α and non-α globin chains. Drugs currently available for this purpose have limited application due to moderate therapeutic properties, variable patient response and potential cytotoxic effects. Although research into finding new HbF-inducing agents is imperative, the absence of a known biological target hampers drug discovery.

This tool aims to speed up the process of drug discovery by combining the principles of biology and chemoinformatics technology, allowing a more focussed approach to the task of screening for new pharmacological agents in the absence of a known biological target. The model was internally and externally validated paying special attention to the principles of model validation for accepting Chemoinformatics models as described by the Organisation for Economic Cooperation and Development (OECD). This web service will facilitate the computer aided small molecule design as it can serve as a source of activity prediction for compounds. The user can draw a new structure, enter a SMILES notation or upload many structures in an sdf file. By the click of a button a prediction is made available together with a value that indicates if the structure can be tolerated by the model in terms of its domain of applicability.


Prediction of HbF inducers


On November 6 2015, The Cooley’s Anemia Foundation announced that is accepting applications for medical research grants and fellowships in areas related to thalassemia.

The awards are in 3 categories:

  1. Support for Ongoing Clinical Research in Thalassemia
  2. Clinical Trials in Thalassemia Cell and Gene Therapy
  3. Research Fellowships

More information: CAF website

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A classification model for the prediction of the Chelation outcome in thalassemia patients using as input the following parameters: Gender, Age, Vitamin D, T2 Liver, T Score Spine, T Score Femur, and Diabetes presence. A successful Chelation is considered if the Ferritin values are below of 1000 ng/mL.

Prediction of chelation outcome


BCL11A is a transcriptional repressor that inhibits expression of foetal globin genes in adults, and is a potential therapeutic target for the treatment of β-haemoglobinopathies, such as β-thalassaemia and sickle cell disease. The enhancer of BCL11A is subject to common genetic variation associated with foetal haemoglobin level. In a recent article published in journal Nature, Daniel Bauer, Stuart Orkin and colleagues used a CRISPR–Cas9 approach to perform saturation mutagenesis of the human and mouse BCL11A enhancers, producing a map that reveals critical regions and specific vulnerabilities. They validated BCL11A enhancer disruption by CRISPR–Cas9 as a therapeutic strategy for inducing foetal haemoglobin by applying it in both mice and primary human erythroblast cells. The discovery creates a path for developing gene editing approaches for treating sickle cell disease and other haemoglobin disorders.

More information: Nature article

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