Doctor insights on:
Can Sickle Cell Anemia Be Diagnosed With A Karyotype
Is it possible to be diagnosed with sickle cell anemia at 43? Even without ever experiencing any symptoms of the disease?
Possible, but...: Most people will have symptoms of enough severity to be diagnosed before adulthood. That being said, there is variation in the severity of sickle cell disease, most likely due to a number of other genes that modulate the symptoms. Thus, it probable is quite rare, but there could be that individual with a particular genetic makeup that has minimal disease that goes undiagnosed. ...Read more
More info needed: Patients with sickle cell anemia have greater tendency for severe anemia and infection. Usually children have more difficulties. Sometimes frequent transfusion is needed to assist in crises, or to suppress sickle hemoglobin and decrease sickling issues which can be very painful. Hydroxyurea is used to help symptoms and to increase fetal hemoglobin, vaccinations, and antibiotics help. See MD. ...Read more
Who will have it bad: The trend currently is trying to find out why some people have very little problems and others can be so troubled by this disease. In some, the disease will cause strokes, lung problems, leg ulcers etc. If we knew early on who would have it bad, maybe treatments could be given earlier to prevent these problems. But not everyone has it bad, so it is hard to know. ...Read more
See below: Sickle cell anemia occurs when 2 abnormal hemoglobin genes are present and a person's body produces sickle cell hemoglobin exclusively. 1 sickle cell gene and a normal gene produce sickle trait, which has no symptoms. Other abnormal hemoglobin genes can combine with a sickle cell gene and produce other types of anemia. There are several other genetic hemoglobin abnormalities. ...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 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 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
No: Sickle cell disease occurs when you inherit sickle genes from both parents. The parents are usually unaffected because they have at least one normal gene that does the work for two. When you have 2 defective genes, the work is not done and you have sickle cell disease. You don't catch it like a germ or develop it as a reaction to something. ...Read more
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
Gene defect: Years ago a mutation in a gene (set of instructions) used to form hemoglobin appeared. A single gene of a pair conferred some resistance to malaria, a germ that invades red cells. With a normal gene paired with the defect, they were able to live normally. If 2 defective genes appear in a person, their red cells are stiff & breakdown quickly (anemia) & are unable to get easily through capillaries. ...Read more