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Sickle cell disease is one of the most common hereditary diseases. Most severe complications can be avoided if the disease is detected early and treated appropriately.
The sickle cell disease registry of the Society for Paediatric Oncology/Haematology aims at describing the epidemiology of sickle cell disease in German-speaking central Europe. Patients with sickle cell disease will be characterized clinically and genetically and treatment will be documented with the aim to find predictors of the course of disease.
In addition, the registry results should provide a solid evidence base to incorporate sickle cell disease into routine newborn screening and to update the national guidelines for the management of patients suffering from sickle cell disease in Germany.
A consortium of five university hospitals (Berlin, Frankfurt, Hamburg, Heidelberg, Ulm) has been mandated by the Society for Paediatric Oncology/Haematology to implement this registry.
The number of participating centers is constantly increasing and new centers that take care of either pediatric or adult patients with sickle cell disease are encouraged to support the registry.
For further information please refer to: http://www.sichelzellkrankheit.info/
Sickle Cell Disease
Center for Child and Adolescent Medicine, University Medical Center Heidelberg
University Hospital Heidelberg
Published on BioPortfolio: 2017-11-07T00:20:11-0500
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One of the sickle cell disorders characterized by the presence of both hemoglobin S and hemoglobin C. It is similar to, but less severe than sickle cell anemia.
An abnormal hemoglobin resulting from the substitution of valine for glutamic acid at position 6 of the beta chain of the globin moiety. The heterozygous state results in sickle cell trait, the homozygous in sickle cell anemia.
An acute purulent infection of the meninges and subarachnoid space caused by Streptococcus pneumoniae, most prevalent in children and adults over the age of 60. This illness may be associated with OTITIS MEDIA; MASTOIDITIS; SINUSITIS; RESPIRATORY TRACT INFECTIONS; sickle cell disease (ANEMIA, SICKLE CELL); skull fractures; and other disorders. Clinical manifestations include FEVER; HEADACHE; neck stiffness; and somnolence followed by SEIZURES; focal neurologic deficits (notably DEAFNESS); and COMA. (From Miller et al., Merritt's Textbook of Neurology, 9th ed, p111)
A disease characterized by chronic hemolytic anemia, episodic painful crises, and pathologic involvement of many organs. It is the clinical expression of homozygosity for hemoglobin S.
The condition of being heterozygous for hemoglobin S.
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