Special Issue "Newborn Screening for Sickle Cell Disease and other Haemoglobinopathies"
A special issue of International Journal of Neonatal Screening (ISSN 2409-515X).
Deadline for manuscript submissions: closed (30 September 2018).
A printed edition of this Special Issue is available here.
Interests: sickle cell disease, thalassemia, hemoglobinopathies, newborn screening, digital health interventions
Sickle cell disease is a severe, hereditary, non-malignant disorder of hemoglobin based on homozygous or compound heterozygous mutations in the β globin genes. Life-threatening complications may occur as early as age three months and are most commonly related to infections by encapsulated bacteria. Thus, they are largely preventable by appropriate preventive measures including vaccinations, penicillin prophylaxis and the education of parents, provided that the diagnosis has been previously established. For this reason, sickle cell disease is the target disease of several national newborn screening programs.
β thalassemias are a very heterogeneous group of blood disorders. The huge spectrum of clinical variability includes asymptomatic and oligosymptomatic states (β thalassemia minor, mild forms of β thalassemia intermedia) as well as significant to severe manifestations associated with high morbidity and mortality (more severe forms of β thalassemia intermedia and β thalassemia major). Severe forms of β thalassemia major can be diagnosed as a byproduct of neonatal screening for sickle cell disease. However, originary neonatal screening for β thalassemia alone does not fulfill the (modified) Wilson Jungner criteria and is not justified. Nevertheless, there is broad consensus among experts that screening results that raise suspicion of significant β thalassemia disease states should be reported.
α thalassemias are not as heterogeneous as β thalassemias. Most genotypes are not associated with a significant phenotype. However, occasionally, severe forms of α thalassemia, e.g. HbH/Constant Spring disease may cause suspicious results in newborn screening for
The Special Issue on newborn screening for hemoglobinopathies of the International Journal of Neonatal Screening will focus on the state-of-the-art of the neonatal diagnosis of disorders of hemoglobin with an emphasis on sickle cell disease. It will also provide insight into the genetic and pathophysiological background of sickle cell disease, as well as into its clinical course and contemporary treatment in high resource countries.
The following topics could be interesting for the reader. Some are taken from the program of the Pan-European Conference on Newborn Screening for Hemoglobinopathies. It is likely that many speakers at this conference will be willing to contribute to this Special Issue:
- Sickle cell disease (genetics, pathophysiology, clinical presentation and treatment)
- Alpha and beta thalassemia (genetics, pathophysiology, clinical presentation and treatment)
- The changing epidemiology of sickle cell disease (SCD) in Europe: past, present and future
- Newborn screening (NBS) for hemoglobinopathies - where are we in 2018?
- Classical screening methods (IEF/HPLC/CE)
- Point-of-care diagnostics
- MALDI-TOF MS
- Targeted versus universal NBS? Information of carriers?
- An overview of NBS for hemoglobinopathies in several countries (can be subdivided)
- North–South collaboration on SCD: a global view
Dr. Stephan Lobitz
Prof. Jacques Elion
Dr. Raffaella Colombatti
Dr. Elena Cela
Manuscript Submission Information
Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All papers will be peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.
Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. International Journal of Neonatal Screening is an international peer-reviewed open access quarterly journal published by MDPI.
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