Got both mutations. A person has sickle cell beta thalassemia if he inherited one gene mutation for sickle cell anemia, and also inherited one gene mutation for beta thalassemia. He can have symptoms of sickle cell disease, unlike patients with only sickle cell trait who are generally without symptoms.
Sickle Cell + B Thal. Sickle cell beta thalassemia is a condition in which one of the paired chromosomes for hemoglobin contains a sickle cell mutation and the other contains a beta thalassemia mutation resulting in an abnormal hemoglobin. Complex rearrangements/ crossovers may occur as well. The clinical severity varies with the mutations involved.
Not if just 1 trait. Having either beta thalassemia trait or sickle cell trait is a mild condition and should not cause symptoms to the point of making a person frequently ill nor shortening life expectancy. Having beta thalassemia major or sickle cell disease, or both sickle cell trait and beta thalassemia trait, usually causes severe enough chronic disease symptoms to shorten lifespan an uncertain amount.
Life expectancy. With clinically significant sickle syndromes or thalassemia syndromes is lower than for people without these afflictions, but are improving all the time. If you have trait for either condition, it should not have a measurable impact on your life expectancy.
I'm 33 with sickle cell beta+thalassemia I'm having sharp pain in right ear n jaw n throat. My neck hurtscslso all on my right side. Whats wrong? Tp
Crisis? Sickle beta plus thalassemia can have a crisis Have you had them before. Do you have a throat infection causing referred pain.? See your doctor and get the best treatment you can. If you are having a fever or the pain is very intense, I would see the urgicare clinic or the ER tonight. Best wishes.
Probable virus. This sounds like a viral throat infection with pain radiating to the ear and neck. If your symptoms worsen instead of gradually improving, examination of the throat, ear and neck along with a throat culture needs to be performed. In the meantime, gargle with warm salt, drink adequate fluids and take Tylenol (acetaminophen).
More information? For short duration pain, Sickle crisis may be but this pain sounds like many other problems. While deep pain may be difficult to pinpoint for the patient, she can have all of the diseases other people have. TMJ arthritis, supperative otitis media, lesions of middle ear, TM, upper pharynx. Many people with Sickle beta plus thal do not know it and never have seizures, others have them more often.
Beta thalassemia. Is a quantitative deficiency of beta globin, caused by alterations in regulatory elements governing beta globin expression. The mutation that causes sickle cell anemia is a qualitative abnormality of beta globin. Two hgbs alleles causes sickle cell dz. But you can inherit one hgbs and one beta thal allele (so called sickle-beta thal). Dz severity depends on beta globin expression from thal allele.
No. It is not sickle cell disease. It is a "hemoglobinopathy" or genetic disorder of hemoglobin...And it can cause anemia. Sickle cell has malformed red blood cells that become "sickle" shaped and can get stuck in organs and vessels and cause pain. E/beta thalassemia is different.
Blood tests. Sickle beta thalassemia is diagnosed by blood tests: routine blood counts, hemoglobin electrophoresis to find out the types of hemoglobin one has in one's blood, and dna analysis to try to see if certain mutations are present.
Blood test. Sickle Beta cell Thalassemia is an inherited disorder and new born screening is available and should be done. This disorder is due to decreased synthesis or absence of beta globulin chains. It may manifest in infancy and early childhood and may cause serious medical problems which need to be treated.