Maria Domenica Cappellini: The Believe Trial: Luspatercept in Adult Beta-Thalassemia
This abnormal expansion causes bones to become thinner, wider and brittle. The incidence of symptomatic cases is estimated to be approximately 1 in , individuals in the general population. If your body doesn't make enough of these protein chains or they're abnormal, red blood cells won't form correctly or carry enough oxygen. This condition is called beta thalassemia trait or beta thalassemia minor. Genetic counseling is recommended for affected individuals and their families. However, because of the number of genes involved, the expression of genotype and phenotypes in alpha thalassemia is diverse and varied, and the specific genotype-phenotype correlations are not completely understood. Survival and complications in thalassemia. This means they only have one of the faulty genes that causes the condition. The characteristic finding of all forms of alpha thalassemia is anemia, with red blood cells that are small microcytic , contain low levels of functional hemoglobin hypochromic , and may break down in prematurely in both the bone marrow ineffective erythropoiesis and in the peripheral circulation hemolysis. A mutation in one HBB gene results in either reduced or no production of beta chains from that gene.
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