Haemoglobinopathies and other rare anemias in Spain: ten years of a nationwide registry (REHem-AR).

REHem-AR was created in 2013. The progressive implementation of neonatal screening for haemoglobinopathies in Spanish autonomous communities where the registry had not been implemented, as well as the addition of new centres during this period, has considerably increased the sample of patients covered. In this study, we update our previous publication in this area, after a follow-up of more than 5 years.

Invasive Bacterial Infections in Children With Sickle Cell Disease: 2014-2019.

Background: Children with sickle cell disease (SCD) are at a high risk of invasive bacterial infections (IBI). Universal penicillin prophylaxis and vaccination, especially against Streptococcus pneumoniae, have deeply changed its epidemiology. Analysis of IBI in children with SCD in a post-13-valent pneumococcal vaccine era is limited.

Periventricular nodular heterotopia and dystonia due to an ARFGEF2 mutation.

Background: Heterotopias are a neuronal migration disorder caused by extrinsic factors or by genetic mutations. When the location is periventricular, the most frequent genetic cause is the mutation in the "filamin A2 gene", which is X-linked. New genes for periventricular nodular heterotopia with an autosomal inheritance pattern have been recently discovered.