The researches find that the new treatments for sickle cell disease; a group of inherited red blood cell disorders, has never been so great; but it will only be realized if there is constant investment in health policies such as programs for screening newborns; especially in sub-Saharan Africa, where most cases occur.

Treatments for sickle cell disease

This point is make in a comprehensive review of the main research findings regarding sickle disease publish in Nature Reviews Disease Primers and signed by experts affiliate with institutions in the United States; therefore United Kingdom, Ghana and Brazil. Because Sickle cell disease is cause by a mutation in the gene that helps make hemoglobin; the oxygen transport protein in red blood cells.

Red blood cells containing normal hemoglobin are disc-shape, but cells with this mutation are sickle-shape. Sickle cell anemia is the most severe disorder in the group of relate diseases. Another medically important hemoglobin-related disorder is thalassemia, a hereditary form of chronic anemia with different degrees of severity.

Normal hemoglobin

Costa, the only Brazilian among the authors of the study, is referring to the existence of publicly find blood centers and support from SUS, the national health service; for PNTN, a nationwide neonatal screening program, which administers, among other diagnostic modalities, the heel prick test; which is design to detect hemoglobinopathies and six other diseases in newborns.

Costa also stressed the importance of the free supply by the SUS of hydroxycarbamide (also know as hydroxyurea), the main drug used to treat sickle cell anemia; and the blood transfusions required by many patients. “A lot of progress has been made in Brazil, which has successfully established centers of excellence. Diagnosis, treatment and research have all developed significantly in recent decades;” he told.

Sickle cell anemia

Costa is the principal investigator for the Thematic Project “Red blood cell disorders: pathophysiology and new therapeutic approaches” funded by Paulo Research Foundation FAPESP. The Nature Reviews article highlights a decision by the US Food and Drug Administration (FDA) to rate the development of new treatments for sickle cell disease (SCD) as a top priority; facilitating investment by the pharmaceutical industry.

As a result, many drugs targeting one or more of the mechanisms that contribute to SCD are currently being tested in humans. “The prospects for new treatments for SCD have never looked better;” the authors conclude. Sickle cell anemia is the most severe and prevalent form of SCD. Sickle-shaped red blood cells are deformed and become rigid; with a tendency to polymerize – form groups that stick to the inner lining of blood vessels (endothelium) impairing or even blocking the flow of blood.