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Doctor insights on: What Are The Causes Of Sickle Cell Disease

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What are the causes of sickle cell disease?

What are the causes of sickle cell disease?

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

Dr. James Ball
355 doctors shared insights

Sickle Cell Disease (Definition)

A group of disorders that cause red blood cells to become ...Read more


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What are the symptoms of sickle cell disease- hydroxyurea?

What are the symptoms of sickle cell disease- hydroxyurea?

Well tolerated drug.: Hydrea (hydroxyurea) is a chemotherapy like drug that can help prevent painful crises in patients with sickle cell disease. It is well tolerated for the most part. There can be fatigue, mouth sores and loose stools. It will routinely lower the white blood cell count and platelets, but not to dangerous levels. Hemoglobin may actually improve. There is ? Of leukemia risk in other diseases, but not in scd. ...Read more

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What are the causes of sickle cell disease and what are some characteristics?

What are the causes of sickle cell disease and what are some characteristics?

Genetic disease: Sickle cell disease means the patient inherited the gene for sickle cell disease from both mother and father. The disease is associated with anemia (low blood) and often some degree of jaundice (yellowness.) people with this problem are more likely to be ill with infections early in life and take antibiotics and receive special vaccinations, to help prevent infections. ...Read more

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What are the symptoms of sickle cell disease vs anemia?

What are the symptoms of sickle cell disease vs anemia?

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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What are the causes of sickle cell anaemia in uk?

What are the causes of sickle cell anaemia in uk?

Hereditary: Sickle cell anemia is a genetic blood disorder- that you are inherited from your parents. Sickle cell anemia has nothing to do with geographical area- whether you are in uk or usa or elsewhere. ...Read more

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What is the cause of sickle cell disease and trait?

What is the cause of sickle cell disease and trait?

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

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What are the symptoms of sickle cell anemia like?

What are the symptoms of sickle cell anemia like?

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

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What are the symptoms of sickle cell anemia?

What are the symptoms of sickle cell anemia?

Several symptoms: Sickle cell anemia leads to pain in the bones. It can also lead to shortness of breath, fatigue, chest pain, strokes. ...Read more

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What are the symptoms of sickle cell anaemia?

What are the symptoms of sickle cell anaemia?

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 other problems. Sickle cell disease is not the same in all people. Some have milder symptoms. ...Read more

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What are some of the more subtle symptoms of sickle cell anemia disease?

What are some of the more subtle symptoms of sickle cell anemia disease?

Not much: Sickle cell disease is seldom subtle. Patients have intermittent periods of intense pain, often in bone, they have all manifestations of profound anemia, including diminished exercise tolerance, shortness of air, generalized fatigue, etc. This is a very bad disease with few subtle manifestations. ...Read more

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What are the effects of sickle cell anemia?

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 more

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What is the cause of sickle cell trait?

What is the cause of sickle cell trait?

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 more

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What are the symptoms of sickle cell trait vs anemia?

What are the symptoms of sickle cell trait vs anemia?

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

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What is the symptoms of sickle cell anemia?

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 more

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What are the most common symptoms of sickle cell crisis?

What are the most common symptoms of sickle cell crisis?

Sickle cell crisis: Sx skeletal-abdominal-chest pain. This is an emergency. May need oxygen, pain meds, antibiotic (if infection is suspected), IV fluids, blood transfusions. ...Read more

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What are the causes of tay-sachs disease?

What are the causes of tay-sachs disease?

Birth defect: Tay sachs disease is caused by a chromosomal abnormality and would be because both parents passed the gene (autosomal recessive) and is seen in 1:3000 babies seen in ashkenazi jewish population. ...Read more

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What cause the symptoms of sickle cell anemia?

What cause the symptoms of sickle cell anemia?

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

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What are the symptoms of having the sickle cell trait?

Usually none: Having sickle cell trait means being a carrier for a mutation in one of the hemoglobin genes. It usually does not give any symptoms, but is able to be transmitted to ones children. If the other parent also has sickle cell trait or sickle cell anemia, then the children are at risk for possibly inheriting sickle cell anemia. ...Read more

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What are the types of gene defects in sickle cell anemia?

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