Newborn Screening for Sickle Cell Disease and other Haemoglobinopathies

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
β hemoglobinopathies.

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:

1. Sickle cell disease (genetics, pathophysiology, clinical presentation and treatment)
2. Alpha and beta thalassemia (genetics, pathophysiology, clinical presentation and treatment)
3. The changing epidemiology of sickle cell disease (SCD) in Europe: past, present and future
4. Newborn screening (NBS) for hemoglobinopathies - where are we in 2018?
5. Classical screening methods (IEF/HPLC/CE)
6. Point-of-care diagnostics
7. MALDI-TOF MS
8. Tandem-MS
9. Targeted versus universal NBS? Information of carriers?
10. An overview of NBS for hemoglobinopathies in several countries (can be subdivided)
11. North–South collaboration on SCD: a global view

Dr. Stephan Lobitz
Prof. Jacques Elion
Dr. Raffaella Colombatti
Dr. Elena Cela
Guest Editors

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