Patients suffering from Sickle Cell Disease (SCD) are constantly exposed to a variety of health hazards, particularly infections and acute crises: a regular surveillance of their clinical and haematological situation is therefore necessary. As for preventive measures, penicillin protection is usually effective to reduce the frequency of infection, together with vaccination against common pathogens. Blood transfusions are given to prevent cerebral vascular accidents. Among pharmacological agents so far tested, a prominent role is played by compounds which have been proven capable to reactivate the production of Foetal Haemoglobin (HbF), as the presence of significant amounts of this haemoglobin can reduce the incidence and severity of complications; to this aim the best compound available at present is hydroxycarbamide (HC), or hydroxyurea, which has demonstrated a beneficial effect on both clinical and blood parameters of SCD patients: this has been very recently linked with a direct action on erythroid genes, like BCL11A, which are involved in the regulation of HbF levels. Histone deacetylase inhibitors, like butyrate, are also under investigation; vaso-dilators like nitric oxide, failed to give consistent results in recent trials. Pain management includes opiate analgesics, corticosteroids and oxygen administration. Transfusion therapy is mainly indicated for acute events, but regular transfusions are given to high-risk children for stroke prevention. Red cell exchange has the edge over simple blood transfusions when a fast reduction of HbS amount is required, namely in the presence of neurological symptoms. In patients receiving chronic transfusion regimens iron chelation treatment is necessary to avoid iron overload. Haemopoietic stem cell transplantation (HST) is the only curative treatment, but is possible only in a limited number of cases. The most promising option is gene therapy, particularly after the introduction of induced pluripotent stem cells (iPS), which appear an appropriate target for permanent integration of a therapeutic transgene: experiments are under way to obtain genetic correction of SCD haemopoiesis as well as β-thalassemia. The insertion of an ankirin insulator into a lentiviral vector is part of the new approaches for the treatment of these disorders.
|Title of host publication||Sickle Cell Disease: A New Vision for an Old Problem|
|Publisher||Nova Science Publishers, Inc.|
|Number of pages||14|
|Publication status||Published - 2013|
ASJC Scopus subject areas