What is the point mutation in beta thalassemia?

Beta thalassemia results from point mutations in the beta-globin gene. It is divided into three categories based on the zygosity of the beta-gene mutation. A heterozygous mutation (beta-plus thalassemia) results in beta-thalassemia minor in which beta chains are underproduced. It is mild and usually asymptomatic.

What type of mutation occurs in beta thalassemia?

Beta thalassemia is caused by mutations in the hemoglobin beta (HBB) gene. Individuals with beta thalassemia minor have a mutation in one HBB gene, while individuals with the intermediate and major forms have mutations in both HBB genes.

Is thalassemia a substitution mutation?

Beta-thalassemias are heterogeneous at the molecular level. More than 200 disease-causing mutations have been so far identified. The majority of mutations are single nucleotide substitutions, deletions, or insertions of oligonucleotides leading to frameshift. Rarely, beta-thalassemia results from gross gene deletion.

Is thalassemia A missense mutation?

Two missense mutations in the beta-globin gene can cause severe beta thalassemia.

Can beta thalassemia be cured?

Blood transfusions and chelation do not cure beta thalassemia. A stem cell transplant can cure it, but it is a serious procedure with many risks and won’t benefit everyone with the condition. Doctors and scientist are working on developing gene therapies and other treatments to help people with beta thalassemia.

Can thalassemia lead to leukemia?

The coexistence of thalassemia with cancers such as Hodgkin disease, lymphoma, seminoma, and leukemia has been reported [3,4,5,6,7]. This coexistence could be explained by either genetic or environmental interactions, or it might be thought of as just a coincidence.

What causes thalassemia mutation?

Thalassemia is caused by mutations in the DNA of cells that make hemoglobin — the substance in red blood cells that carries oxygen throughout your body. The mutations associated with thalassemia are passed from parents to children.

What kind of mutation causes beta thalassemia?

Beta-thalassemia (β-thalassemia) can be caused by homozygous or compound heterozygous mutations in the HBB gene. Alpha-thalassemia (α-thalassemia) is caused by mutations in the HBA1 and HBA2 genes It has two clinically significant forms: Hemoglobin Bart hydrops fetalis (Hb Bart) syndrome – caused by deletion of all four α-globin genes

How is beta thalassemia related to iron overload?

People with this form are also at risk for iron overload. Beta-thalassemia is caused by mutations in the HBB gene and is typically inherited in an autosomal recessive manner. This means that people with thalassemia major or thalassemia intermedia have a mutation in both of their copies of the HBB gene.

How is beta thalassemia determined by RBC index?

Typical beta-thalassemia carriers are identified by analysis of RBC indices, which shows microcytosis (low MCV) and reduced content of Hb per red cell (low MCH), and by qualitative and quantitative Hb analysis, which displays the increase of HbA2.

What are the side effects of beta thalassemia?

People with beta-thalassemia have anemia, which can cause paleness, weakness, fatigue, and more serious complications. [1] There are two main forms of beta-thalassemia, classified based on the severity of symptoms: [2]