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Doctor insights on: Sickle Cell Disease

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Dr. James Ball
355 Doctors shared insights

Sickle Cell Disease (Overview)

A group of disorders that cause red blood cells to become misshapen and break down.


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How does sickle cell disease affect a person?

How does sickle cell disease affect a person?

Many ways.: 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

Dr. James Ball
355 Doctors shared insights

Sickle Cell Disease (Overview)

A group of disorders that cause red blood cells to become misshapen and break down.


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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 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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Why signs of splenomegaly and cardiomegaly in cases of sickle cell disease?

Why signs of splenomegaly and cardiomegaly in cases of sickle cell disease?

Sickled RBC's: The spleen not only helps in processing antigens to help wbc's fight infection, it also acts as a "stress test" for rbc's, weeding out the weaker and older ones for recycling. As rbc's "sickle", they cause clumps in the vessels, this is what causes the pain in the joints/chest and also what causes the spleen to swell. If happens in the coronary arteries, can weaken the heart and enlarge it. ...Read more

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How do 2 people without sickle-cell anemia to have a child with sickle-cell disease?

How do 2 people without sickle-cell anemia to have a child with sickle-cell disease?

Yes: The defect of sickle cell anemia occurs when 2 sickle cell genes are passed to a newborn. Since each parent passes half their genes at conception & it takes 2 sickle genes to cause disease, one gene comes from each parent. Many parents carry this gene quietly, unknown to them because it doesn't make a single gene carrier sick. ...Read more

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Could you be 68 years old and just now be diagnosed with sickle cell disease?

Could you be 68 years old and just now be diagnosed with sickle cell disease?

Yes.: Even though patients with sickle cell disease have the same mutation in both copies of the beta-hemoglobin gene, how this affects a given person can vary immensely. Though not too common, someone could be asymptomatic (or not properly diagnosed if having symptoms) from the disease. All babies in the us now are tested at birth, but someone who is 68 would not have had this testing performed. ...Read more

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How does a genetic mutation cause sickle-cell disease?

How does a genetic mutation cause sickle-cell disease?

Important gene...: Sickle cell anemia is caused by a mutation in the gene that tells your body to make hemoglobin. Hemoglobin allows red blood cells to carry oxygen from your lungs to all parts of your body. In sickle cell anemia, the abnormal hemoglobin causes red blood cells to become rigid, sticky and misshapen. These abnormal red blood cells lead to the various symptoms of the disease. ...Read more

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How is sickle cell disease being treated today?

How is sickle cell disease being treated today?

Supportive care: The only thing that may potentially cure scikle cell disease is a bone marrow transplantation- if procedure can be done safely. Otherwise, scikle cell disease is treated with supportive care- i.e. Good hydration, folic acid, medication like hydroxy urea, prevention from crisis, blood trasnfusion if needed, iron chelating agent etc. ...Read more

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What is the treatment for sickle cell disease if any?

What is the treatment for sickle cell disease if any?

See below: Treatment for sickle cell anemia is usually aimed at avoiding crises, relieving symptoms and preventing complications. If you have sickle cell anemia, you'll need to make regular visits to your md to check your red cell count and monitor your health. Treatments may include medications to reduce pain and prevent complications, blood transfusions and supplemental oxygen, and bone marrow transplant. ...Read more

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Does sickle cell nemia has treatment? If so what are the medications? What are the foods that achild with sickle cell anemia eat? Is it tur that when some body reaches the age eighteen the disease disapears

Does sickle cell nemia has treatment? If so what are the medications? What are the foods that achild with sickle cell anemia eat? Is it tur that when some body reaches the age eighteen the disease disapears

Many questions: Sickle cell anemia is genetic and never disappears without bone marrow transplantation. Sickle cell anemia has medications that improve outcomes. Penicillin prophylaxis, empiric treatment of fever with antibiotics, and Prevnar (pneumococcal vaccine) / Pneumovax immunizations decrease risk of dying from infection. Hydroxyurea can decrease the frequency of painful crises and may minimize / delay sickle cell damage to body ...Read more

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Is there any permanent cure for sickle cell disorder in a child?

Is there any permanent cure for sickle cell disorder in a child?

Yes: A bone marrow transplant will cure sickle cell disease. However, bmt is a very complex and potentially dangerous medical treatment that should only be performed if the benefits outweigh the significant risks. For most children with sickle cell disease, temporary treatment is the only realistic therapy. ...Read more

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What are some ways (self-treatment) to prevent or help deal with sickle cell anemia?

What are some ways (self-treatment) to prevent or help deal with sickle cell anemia?

Depends: It depends on the type of sickle cell anemia. Assuming hemoglobin ss disease we recommend good hydration, avoidance of heavy exercise, avoidance of nicotine. It is really a cumbersome topic though these are the major ones. I would ask your physician, they should be able to provide you with education on prevention of sickle cell crises. Sickle cell is genetic, inherited from mom and dad. ...Read more

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Can genetic testing for sickle cell disease be done before birth of baby?

Can genetic testing for sickle cell disease be done before birth of baby?

Genetic test Sickle: Yes the test is done on high risk women at the 17 week of gestation by doing amniocentesis with the permission of both patents. ...Read more

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My boyfriend & I have sickle cell anemia, our son will also inherit the disease. Should we wait until umbilical cord stops pulsating before clamping?

My boyfriend & I have sickle cell anemia, our son will also inherit the disease. Should we wait until umbilical cord stops pulsating before clamping?

Doesn't matter: Sickle cell disease will affect his blood cells over time as they sickle with dehydration and illness, or as they live a shorter duration in the body. Generally there aren't any symptoms at birth, and nothing having to do with the cord will make a difference. In actuality, his fetal hemoglobin will be more protective from sickle cell, and treatments now focus on keeping fetal hemoglobin around. ...Read more

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How do I prevent a crisis in flying with sickle cell anemia?

How do I prevent a crisis in flying with sickle cell anemia?

Sickle cell anemia: Good hydraion and good control/follow up wi your docor for your sickle cell are important. Your risk obviously will depend on the type of sickle cell anemia, the severity and your compliance to the therapy given for your sickle cell anemia. D/w your md and follow the recommendation. In general, need to keep good hydration, oxygenation. Take your Hydrea (hydroxyurea) as recommended and f/u with your doctor. ...Read more

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How do 2 people without sickle-cell anemia to have a child with sickle-cell disease?

Yes: The defect of sickle cell anemia occurs when 2 sickle cell genes are passed to a newborn. Since each parent passes half their genes at conception & it takes 2 sickle genes to cause disease, one gene comes from each parent. Many parents carry this gene quietly, unknown to them because it doesn't make a single gene carrier sick. ...Read more

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How could 2 people without sickle-cell anemia to have a child with sickle-cell disease?

How could 2 people without sickle-cell anemia to have a child with sickle-cell disease?

Genetics: Sickle cell disease must be inherited from both parents. Sickle cell trait (1 sickle gene, 1 normal gene) is usually asymptomatic. 2 persons with sickle cell trait have a 1/4 chance of having a child with sickle cell disease, but the parents are often unaware that they have anything. ...Read more

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What is sickle cell disease?

Abnormal blood cells: Sickle cell disease occurs when there is an abnormal type of hemoglobin in blood cells. Thought to be a survivor advantage against malaria, when these cells have too little oxygen they collapse and get stuck in small vessels. This cuts off the blood supply to organs and causes severe pain. Sickle cell traits is when only half the genes code for the abnormal hemoglobin, usually not symptomatic. ...Read more

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What is sickle cell disease?

Red blood disorder: Autosomal recessive disorder when rbc's become rigid and cannot carry oxygen. The hemoglobin is abnormal. Also know as hbss vs hbas or trait. With low oxygen tension the beta chain of the hemoglobin molecule cannot carry oxygen properly and takes a different form-becomes sickle shaped, inelastic. They cannot pass through capillaries and lead to occlusion and ischemia. Rx transfusions, fluids. ...Read more

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Is sickle cell disease thromboembolic?

Possible: Vaso-occlusive crises are acute, painful episodes due to intravascular sickling and tissue infarction and thrombosis. ...Read more

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Can you have partial sickle cell disease?

Sickle cell trait: If you only have 1 of the two genes for sickle cell disease, you have sickle cell trait. This is a benign finding with no real symptoms. It's main significance is that you can pass this gene on to your children. If your partner also has sickle cell trait, then there is a probability that a child in the next gen will have sickle cell disease. ...Read more

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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

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Is sickle cell disease dominant or recesive?

Is sickle cell disease dominant or recesive?

Dominant genetically: Sickle cell disease is inherited as an autosomal recessive condition, which is what you will read from online sources and textbooks. One must inherit the gene from both parents to have the disease. This assumes that inheriting one copy of the gene (trait patient) has no phenotype (medical problems). This is not exactly true, as athletes have died from trait under extreme conditions. ...Read more

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How likely am I to have sickle cell disease?

How likely am I to have sickle cell disease?

Impossible to say: Without knowing anything about you, I can't say how likely. Any symptoms previously or family history? If not, much less likely. Ancestors from africa or around the mediterranean? If not, much less likely. Were you born in a state after they had required screening for sickle cell? If yes and your parents were notified that your screen was normal then you don't. I can't help much more than that. ...Read more

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How does sickle cell disease affect a person?

Many ways.: 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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How do you get tested for sickle cell disease?

How do you get tested for sickle cell disease?

Blood & hemoglobin: The first test is to do a blood test and/or smear to look for sickle-cell shaped red-blood cells. This is a tell-tale sign of sickle cell disease. The second is to do a test called a hemoglobin electrophoresis on the blood to test for any of the hemoglobin molecules such as a, c, s, f. Hemoglobin c and especially s are involved in sickle-cell. ...Read more

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Can men with sickle cell disease have children?

Yes: Yes, it's possible, though many men with sickle cell have problems with infertility. ...Read more