![]() ![]() One mutated gene: Mild signs and symptoms. The condition in between these two types is called beta-thalassemia intermedia with mild to moderate clinical symptoms. It manifests clinically as jaundice, growth retardation, hepatosplenomegaly, endocrine abnormalities, and severe anemia requiring life-long blood transfusions. Beta thalassemia major is caused by a homozygous mutation (beta-zero thalassemia) of the beta-globin gene, resulting in the total absence of beta chains. A heterozygous mutation (beta-plus thalassemia) results in beta-thalassemia minor in which beta chains are underproduced. It is divided into three categories based on the zygosity of the beta-gene mutation. One allele deletion is the mildest form and is mostly clinically silent.īeta thalassemia results from point mutations in the beta-globin gene. It is incompatible with life and results in hydrops fetalis. Four allele deletion is the most severe form in which no alpha globins are produced and the excess gamma chains (present during the fetal period) form tetramers. Alpha globin gene has 4 alleles and disease severity ranges from mild to severe depending on the number of deletions of the alleles. It is caused by either a genetic mutation or a deletion of certain key gene fragments.Īlpha thalassemia is caused by alpha-globin gene deletion which results in reduced or absent production of alpha-globin chains. Thalassemia is an inherited disease, meaning that at least one of the parents must be a carrier for the disease. ![]() If the body does not manufacture enough of one or the other of these two proteins, the red blood cells do not form correctly and cannot carry sufficient oxygen this causes anemia that begins in early childhood and lasts throughout life. It consists of two proteins, an alpha, and a beta. Hemoglobin serves as the oxygen-carrying component of the red blood cells. Thalassemias are a heterogeneous grouping of genetic disorders that result from a decreased synthesis of alpha or beta chains of hemoglobin (Hb).
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