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What Is The Genetic Cause Of Sickle Cell Anemia
Mutated gene: It is believed a single gene mutation occurred hundreds of years ago in a person in sub-Saharan Africa. When carried as one of a pair (trait), it seemed to confer resistance to malaria. It is transmitted as a recessive gene, meaning the normal gene next to it can do the work. When 2 defective genes are present, (sickle cell disease) the proper work is not done and the blood cells are defective. ...Read moreSee 1 more doctor answer
From a medical standpoint, "genetic" refers to the potential heritability of various medical conditions. While some conditions are inevitable (at some point in one's life) as a consequence of simple genetic heritability (eg huntington's disease), a large number of medical conditions (including all behaviorial health disorders) are the expressed final pathway of a ...Read more
You may be confused.: Fetuses do not suffer from sickle cell anemia in utero because they have a different type of hemoglobin (fetal) that is unaffected even in individuals destined to have sickle cell disease later in life. Affected fetuses come from affected or carrier parents and sickle cell disease is a genetic condition without cure at present. See a genetic counselor to discuss these issues in detail. ...Read moreSee 1 more doctor answer
Gene mutation: Sickle cell trait is caused bu the presence of a single mutation in the beta chain of human hemoglopin a gene. A mutation in one gene on one of a person's two beta globin genes results in sickle cell trait (sa hemoglobin) while the same mutation in both of a persons genes causes sickle cell anemia. (ss hemoglobin). The term trait means a carrier for the sickle cell mutation. ...Read more
Anemia, pain, crises: The most frequent presenting signs/symptoms of sickle cell include anemia and typical sickle cell crises which include pain crises (severe pain in arms, legs, shoulders, back), acute chest crisis (shortness of breath, cough, fever, lung infiltrate), dactylitis (pain toes/fingers usually as a toddler) and others. Most patients that have sickle cell trait are completely asymptomatic. ...Read moreSee 1 more doctor answer
Symptoms of SS: The altered shape of the red blood cells causes them to stack up together and clog blood vessels, depriving the tissues of adequate blood supply and oxygen. The tissues then die (infarct) and this causes pain. The red cells also rupture or are eaten by the spleen and cause anemia. The spleen itself will gradually infarct, leaving the patient susceptible to infections. ...Read more
Blood: The genetic defect is in the hemoglobin molecule. ...Read more
It is inherited: Hemoglobin (HGB) is a complicated chemical that is in the red blood cells and carries oxygen. We inherit one gene from each parent that makes one of the parts of HGB called beta chains. If we inherit a sickle beta chain gene from one parent and a normal beta chain gene from the other, we have sickle trait. If we inherit a sickle beta chain gene from both parents, we have sickle cell anemia. ...Read more
Genetic: With ss disease a genetic mutation changes the gene sequencing needed for normal hemoglobin production.The alteration changes the way the hemoglobin handles the oxygen molecule as it carries it in the blood.The blood cell then becomes distorted in the small capillaries and the spleen.The cell breaks down rapidly and or remains trapped.Anemia is a chronic problem. ...Read more
Inheritance: The sickle cell gene is a mutation in the way the hemoglobin molecule is formed.It takes a pair of sickle genes to cause the change.A single normal gene can cancel the abnormal gene effect. Parents with a single sickle cell gene will be asymptomatic. When a baby gets a sickle gene from both parents, the abnormal genes are expressed as SS disease. ...Read more
Trait is asymptomatc: A person with as hemoglobin (sickle cell trait is almost always asymptomatic themselves but can pass the mutated gene onto their children. A person with sshemoglobin(sickle cell anemia) is also sometimes asymptomatic, but often develops some symptoms including: anemia, fatigue, pain, slow growth, increased incidence of infection crises, etc. ...Read more
No: True sickle cell disease requires a recessive gene contribution from both parents. These parents are asymptomatic carriers and may not know they have the gene.At conception the sperm carries one s gene that joins with the mothers s gene, so the pair both have the ss information as will every cell in the body. ...Read more
Yes: A bone marrow transplant can replace the cells responsible for creating sickle cells with cells that produce normal hemoglobin. This is a very difficult and dangerous procedure that can lead to significant complications and death. This is why it is not routinely used to treat sickle cell anemia. Research is ongoing in attempts to have people with sickle cell anemia make normal blood cells. ...Read more
Hemoglobinopathy: Patients with sickle cell anemia make an abnormal hemoglobin (hgb.). Normal HGB consists of paired protein chains (globin) and an iron containing part (heme). Patients with ssa inherit an abnormal beta-globin gene from each parent. Carriers have one normal beta-globin gene and one sickle beta globin gene. The carriers (trait) have no symptoms. ...Read more
Several: There are several genetic defects that lead to sickle cell anemia. They all lead to a change in the 6th Amino Acid in the beta-globin chain in which valine is substituted for glutamic acid. At least 5 different dna mutations have been identified that all lead to the same Amino Acid substitution, and thus, sickle cell anemia. ...Read more
Many.: Basically, sickle cell disease causes disturbance of the blood vessels, typically smaller vessels. Over time, this can cause many problems. Painful episodes, eye problems, lung problems (similar to pneumonia), strokes, decreased spleen function (which can cause severe infections), kidney problems, and o ther problems. Sickle cell disease is not the same in all people. Some have milder symptoms. ...Read moreSee 1 more doctor answer
Pain.: When red cells sickle, they become rigid and block the flow of blood. If this happens in muscle or bone, the result is pain. In the lung it's pain and shortness of breath. In the brain, it can cause a stroke. Any organ can be effected. A painful crisis happens when blood flow is interrupted. They are episodic and unpredictable. ...Read more
Pain vs weakness: All anemias if bad enough will cause fatigue, weakness, lightheadedness, or shortness of breath with exercise. Sickle cell disease patients are anemic and have these issues, but also have episodes of pain that can occur anywhere in the body (sickle cell crisis) as an additional problem. ...Read more
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