Sickle cell Anemia disease includes a group of rare hereditary diseases in which red blood cells take the form of sickle cells, die prematurely, and have less red blood cells available to carry oxygen around the body increase. These malformed red blood cells are hard and tend to attach to other cells, so they tend to clog and clog small blood vessels. This limits blood flow to various tissues and organs, causing damage and potentially causing painful episodes known as the pain crisis.
Sickle cell disease is caused by mutations in the betaglobin (HBB) gene that lead to the production of abnormal versions of the subunits of hemoglobin, the protein responsible for carrying oxygen to red blood cells. This mutant version of the protein is known as hemoglobin.
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Hemoglobin S is created by modifying the components of a single amino acid or protein. This allows the mutated proteins in the red blood cells to aggregate more easily, forming long, hard fibers. These fibers make red blood cells more fragile and transform them into a sickle-like shape that is characteristic of the disease. In addition to
hemoglobin S, mutations in HBB can also cause the production of other defective versions of hemoglobin such as hemoglobin C and E.
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Sickle cell disease is considered an autosomal recessive disorder. That is, two defective copies of a gene (one from each parent) must be inherited to develop this condition. The disease is not transmitted from person to person and is not caused by what parents may have done before or during pregnancy. In people with sickle cell disease, at least one of the inherited copies of the HBB gene has instructions for making hemoglobin S. If both copies of the hemoglobin S gene code are said to be sickle cell disease, the most common is often the most severe form of sickle cell disease and another defective version of hemoglobin. There are other mutations that contribute to the production of. A person with one copy of the B. hemoglobin C.S variant and one copy of the healthy hemoglobin A variant has what is known as the sickle cell disease. These individuals usually do not show symptoms of sickle cell disease, but the S variant can still be passed on to biological children.
symptoms of sickle cell anemia:
Symptoms of sickle red anemia include crisis-related acute symptoms such as chest, bones, abdominal pain, rapid heartbeat (tachycardia), malaise, fever, excessive thirst, and dyspnea. Other long-term symptoms include pallor, leg ulcers, jaundice, delayed puberty, and blindness. In some cases, sickle cell anemia can cause a stroke.
Reason for sickle cell anemia:
Sickle cell anemia is a hereditary disorder inherited from parents. Mutations in genes that control the body’s production of hemoglobin cause an abnormally shaped protein called hemoglobin S, which causes the abnormal formation of red blood cells. These crescent-shaped red blood cells are less effective at circulating oxygen throughout the body than normal disc-shaped cells. Sickle cells are also more fragile than normal red blood cells, increasing the risk of blood clots and increasing cell destruction.
In some cases, there is only one copy of the mutated gene. This leads to a condition known as sickle cell disease, which affects 1 in 12 African Americans. People with sickle cell anemia have sickle-shaped cells that are asymptomatic for sickle cell anemia. In fact, the sickle cell trait is thought to prevent malaria infection. People with sickle cell disease and those in high-risk populations may benefit from genetic counseling when planning a family.
Treatment for sickle cell anemia :
Currently, there is no definitive cure for sickle cell anemia, but the symptoms of sickle cell disease can be treated. Some people with this illness have mild and rare symptoms, while others can be severe or even life-threatening. Long-term care for sickle cell disease focuses on reducing the frequency of crises and preventing complications. In some cases, bone marrow transplantation or stem cell therapy may provide permanent treatment for sickle cell anemia, but neither of these treatments is an option for many.
Some treatments that may be beneficial in the case of sickle cell disease include:
- Blood transfusion in severe cases
- Infusion therapy by mouth or vein
- Hydroxyurea (a drug that promotes the formation of another type of hemoglobin)
Long-term sickle cell anemia treatment:
Long-term treatment aims to reduce the number and frequency of crises and prevent complications of sickle cell anemia.
Bone marrow transplantation and stem cell replacement can be effective long-term treatments for sickle cell disease, but both procedures are risky and costly and are not an option for many patients. Because sickle cell anemia is hereditary and therefore occurs in the family, it is not affected by these procedures and it is often difficult to find a matching donor.
New drugs and treatments, including gene therapy, are being studied to treat sickle cell anemia. Much of this study is promising and may help people with sickle cell disease in the future.
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