Sickle cell anaemia what is it

Sickle cell disease. From Genetics Home Reference. Description Sickle cell disease is a group of disorders that affects hemoglobin , the molecule in red blood cells that delivers oxygen to cells throughout the body.

Frequency Sickle cell disease affects millions of people worldwide. Causes Mutations in the HBB gene cause sickle cell disease. Learn more about the gene associated with Sickle cell disease HBB. Inheritance This condition is inherited in an autosomal recessive pattern , which means both copies of the gene in each cell have mutations. Research Studies from ClinicalTrials.

Am J Epidemiol. Pulmonary hypertension as a risk factor for death in patients with sickle cell disease. N Engl J Med. Outcome of sickle cell anemia: a 4-decade observational study of patients. Medicine Baltimore. Sickle cell disease; a general overview.

Neth J Med. This medicine is not safe during pregnancy. Childhood vaccinations to prevent infections Blood transfusions for severe anemia. If you have had some serious complications, such as a stroke , you may have transfusions to prevent more complications. There are other treatments for specific complications. Start Here. Diagnosis and Tests. Treatments and Therapies. Blood and Bone Marrow Transplant? Living With. Related Issues. Health Check Tools. Videos and Tutorials.

What Is Sickle Cell Disease? DNA Learning Center. Statistics and Research. Clinical Trials. Article: American Society of Hematology guidelines for sickle cell disease: stem The risk of infection is a major concern of children without a working spleen. Infection is the major cause of death in children younger than age 5 in this population. This is another sudden and severe complication of people with sickle cell disease. The misshapen cells can block the major blood vessels that supply the brain with oxygen.

Any interruption in the flow of blood and oxygen to the brain can result in severe brain damage. If you have one stroke from sickle cell anemia, you are more likely to have a second and third stroke. Jaundice, or yellowing of the skin, eyes, and mouth. Jaundice is a common sign and symptom of sickle disease. Sickle cells do not live as long as normal red blood cells and, therefore, they are dying faster than the liver can filter them out.

Bilirubin which causes the yellow color from these broken down cells builds up in the system causing jaundice. This is a painful obstruction of the blood vessels in the penis by sickle cells. If not promptly treated, it can result in impotence.

How is sickle cell disease diagnosed? Along with a complete medical history and physical exam, you may have blood and other tests. How is sickle cell disease treated? Treatment may include: Pain medications. This is for sickle cell crises. Drinking plenty of water daily 8 to 10 glasses. This is to prevent and treat pain crises. In some situations, intravenous fluids may be required. Blood transfusions. These may help treat anemia and prevent stroke.

They are also used to dilute the sickled hemoglobin with normal hemoglobin to treat chronic pain, acute chest syndrome, splenic sequestration, and other emergencies. Vaccinations and antibiotics. These are used to prevent infections. Folic acid. Folic acid will help prevent severe anemia.

This medication helps reduce the frequency of pain crises and acute chest syndrome. It may also help decrease the need for blood transfusions. However, with this disease, the RBCs have an abnormal crescent shape resembling a sickle. This makes them sticky and rigid and prone to getting trapped in small vessels, which blocks blood from reaching different parts of the body.

This can cause pain and tissue damage. SCD is an autosomal recessive condition. You need two copies of the gene to have the disease. If you have only one copy of the gene, you are said to have sickle cell trait. Symptoms of sickle cell anemia usually show up at a young age. They may appear in babies as early as 4 months old, but generally occur around the 6-month mark.

While there are multiple types of SCD, they all have similar symptoms, which vary in severity. These include:. Hemoglobin is the protein in red blood cells that carries oxygen.

It normally has two alpha chains and two beta chains. The four main types of sickle cell anemia are caused by different mutations in these genes. Hemoglobin SS disease is the most common type of sickle cell disease.

It occurs when you inherit copies of the hemoglobin S gene from both parents. This forms hemoglobin known as Hb SS. As the most severe form of SCD, individuals with this form also experience the worst symptoms at a higher rate.

Hemoglobin SC disease is the second most common type of sickle cell disease. It occurs when you inherit the Hb C gene from one parent and the Hb S gene from the other. However, the anemia is less severe. The size of the red blood cell is reduced because less beta protein is made. If inherited with the Hb S gene, you will have hemoglobin S beta thalassemia. Symptoms are not as severe. Sickle beta-zero thalassemia is the fourth type of sickle cell disease. It also involves the beta globin gene.

It has similar symptoms to Hb SS anemia. However, sometimes the symptoms of beta zero thalassemia are more severe. It is associated with a poorer prognosis.

People who only inherit a mutated gene hemoglobin S from one parent are said to have sickle cell trait.