Sickle-cell disease is one of the most common severe monogenic disorders in the world. Haemoglobin polymerisation, leading to erythrocyte rigidity and vaso-occlusion, is central to the pathophysiology of this disease, although the importance of chronic anaemia, haemolysis, and vasculopathy has sickle cell anemia a molecular disease pdf established. Clinical management is basic and few treatments have a robust evidence base.
One of the main problems of sickle-cell disease in children is the development of cerebrovascular disease and cognitive impairment, and the role of blood transfusion and hydroxycarbamide for prevention of these complications is starting to be understood. Recurrent episodes of vaso-occlusion and inflammation result in progressive damage to most organs, including the brain, kidneys, lungs, bones, and cardiovascular system, which becomes apparent with increasing age. Africa than for the rest of the world and that infectious diseases have a role in causing this increased severity of sickle-cell disease. More work is needed to develop effective treatments that specifically target pathophysiological changes and clinical complications of sickle-cell disease. Check if you have access through your login credentials or your institution. Problems in sickle cell disease typically begin around 5 to 6 months of age. Sickle-cell disease occurs when a person inherits two abnormal copies of the haemoglobin gene, one from each parent.
This gene occurs in chromosome 11. Diagnosis is also possible during pregnancy. As of 2015 about 4. 4 million people have sickle-cell disease while an additional 43 million have sickle-cell trait. In 2015, it resulted in about 114,800 deaths. In 1949 the genetic transmission was determined by E.
Sickle-cells in human blood: both normal red blood cells and sickle-shaped cells are present. Signs of sickle cell disease usually begin in early childhood. The severity of symptoms can vary from person to person. Sickle-cell disease may lead to various acute and chronic complications, several of which have a high mortality rate. The terms “sickle-cell crisis” or “sickling crisis” may be used to describe several independent acute conditions occurring in patients with SCD. Most episodes of sickle-cell crises last between five and seven days.
The frequency, severity, and duration of these crises vary considerably. Sequestration crises are considered an emergency. 2 hours due to circulatory failure. Management is supportive, sometimes with blood transfusion. 4 hours and may last for one day. SCD, majority of cases present with vaso-occlusive crises then they develop ACS. Parvovirus infection almost completely prevents red blood cell production for two to three days.