What is the molecular basis of sickle cell anemia?
What is the molecular basis of sickle cell anemia?
Sickle cell disease is caused by a mutation in the hemoglobin-Beta gene found on chromosome 11. Hemoglobin transports oxygen from the lungs to other parts of the body. Red blood cells with normal hemoglobin (hemoglobin-A) are smooth and round and glide through blood vessels.
Is Sickle Cell Anemia a molecular disease?
Sickle cell anemia a molecular disease.
How does sickle cell anemia occur at the molecular level?
1 Its molecular basis is well understood and can be described as follows: When oxygen tension is reduced, the deoxygenated sickle cell hemoglobin (HbS) molecules undergo polymerization that leads to the formation of long fibers which cause the red blood cell to assume a sickle-like shape.
Is Sickle Cell Anemia a monogenic disorder?
Sickle cell disease (SCD) was the first human monogenic disorder to be characterized at the molecular level (1). It results from the substitution of glutamic acid by valine at position 6 of the β-chain of hemoglobin.
What are molecular diseases?
n. A disease in which there is an abnormality in or a deficiency of a particular molecule, such as hemoglobin in sickle cell anemia.
What is Hgb S solubility test?
The Hemoglobin (Hb) Solubility Blood Test evaluates for the presence of the abnormal hemoglobin S (Hb S or Hgb S). Individuals with two copies of the Hb S gene (homozygous) have sickle cell anemia, also known as sickle cell disease.
What is haemogram test?
Haemogram also referred to as complete blood count or complete haemogram test is a group of test performed on a sample of blood. Haemogram serves as broad screening panel that checks for the presence of any diseases and infections in the body.
How to diagnose and treat sickle cell anemia?
Diagnosis. Sickle cell disease and sickle cell trait can be diagnosed with a simple blood test. In the United States, all state governments require testing for sickle cell disease as part of their newborn screening programs. The test uses blood from the blood samples used for other routine newborn screening tests.
What are the diagnostic procedures for sickle cell anemia?
People who have sickle cell disease need to have frequent lab tests . Blood tests can tell your doctor whether you have another health problem, such as anemia or organ damage, so that it can be treated early. Urine testing can help to detect early kidney problems or infections.
What is the best treatment for sickle cell anemia?
The patient may need oxygen, as well as a blood transfusion in some cases. Other treatments can include: Hydroxyurea medication — increases production of a form of hemoglobin that helps prevent red blood cells from becoming sickle shaped.
What do you need to know about sickle cell anemia?
The sickle shape is caused by abnormal hemoglobin attached to the RBC . Hemoglobin carries oxygen to all tissues in your body. Sickle-shaped RBCs can get stuck to the walls of blood vessels. This can stop or slow blood flow, and prevent oxygen from getting to tissues. When this happens, it is called a sickle cell crisis .
