Sickle Cell Outcome REsearch

Sickle cell disease is an autosomal recessive, multisystem disorder,
characterized by ongoing hemolytic anemia, painful ischemic episodes of
vaso-occlusion, and progressive organ failure. Sickle cell disease is the most
common monogenetic disease, with more than 20 million individuals affected
worldwide. Estimates suggest that 300.000 infants are born annually with sickle
cell disease and that this number may rise to 400.000 by 2050. Prevalence of
sickle cell disease and sickle cell carriership is prominent throughout large
areas of sub-Saharan Africa, Middle East, and India. However, migration from
these malaria-endemic regions to North America, Western Europe and Australia
has concomitantly led to widespread distribution of the HbS allele. In the
Netherlands, roughly 2000 individuals are affected, of which 1000 are children.
Most sickle cell disease patients are originally from the Republic of Surinam,
Asia or Africa, with a minority of Afro- Caribbean or Middle Eastern descent.

Comprehensive Care programs in the Western world have greatly extended life
expectancy in sickle cell disease with almost all infants surviving into
adulthood. Nevertheless, life expectancy of sickel cell disease patients is
still 20 to 30 years shorter than average. Premature death is most commonly
caused by chronic end-organ dysfunction in combination with infection or other
comorbidities. In addition, both pediatric and adult sickle cell disease
patients experience a significant decline in all domains of health-related
quality of life (HRQoL) due to disease-related symptoms and complications when
compared to controls. Currently, therapeutic options for sickle cell disease
are still limited.Despite several prior sickle cell disease cohort studies,
many unexplored areas remain. More optimal prediction of sickle cell disease
severity will lead to more precise management and treatment and development of
novel therapeutic options. It is therefore increasingly important to document
initial patient characteristics, symptoms and complications, mortality, and
treatment outcome as well as patient-reported outcomes (PROs), longitudinally
and systematically in registries. In this manner, best treatment options for
each individual at every time point can be identified.

To determine the natural history of sickle cell disease and to identify
modifying factors, including: (epi)genetic, biological, pathophysiological,
social/ demographic, psychological and therapeutic determinants, which
contribute to morbidity and mortality of the disease.

Long term retrospective and prospective observational cohort study of sickle
cell disease patients in the Netherlands. Clinical data will be combined with
outcome measures from the patients* perspective, both patient reported outcome
measures and patient reported experience measures. Data will be collected
retrospectively and prospectively at participants' half yearly regular clinic
visits as part of standard care. The burden associated with participation is
therefore limited to the collection of biological specimens (DNA, plasma and
urine) at set time points (every other year) for decentral biobanking according
to standard national protocol.

Not applicable.