Is thalassemia a gene or chromosome mutation?

Thalassemia is an inherited autosomal recessive disease resulting from mutations in the α- and β-globin gene clusters on chromosome 16 and chromosome 11, respectively. It is characterized by the absence or reduced synthesis of globin chains of hemoglobin and includes two main types, α- and β- thalassemia (1, 2).

Is thalassemia a single gene disorder?

In general, thalassemia is inherited in an autosomal recessive manner; however, the inheritance can be quite complex as multiple genes can influence the production of hemoglobin. Most people affected by beta thalassemia have mutations in both copies of the HBB gene in each cell .

Which of the chromosome mutation leads to beta thalassemia?

Mutations in the HBB gene cause beta thalassemia. The HBB gene provides instructions for making a protein called beta-globin. Beta-globin is a component (subunit) of hemoglobin . Hemoglobin consists of four protein subunits, typically two subunits of beta-globin and two subunits of another protein called alpha-globin.

What gene is responsible for alpha thalassemia?

Alpha thalassemia is caused by mutations in two different genes, the HBA1 and the HBA2 genes. Most individuals inherit two copies of each gene (for a total of four genes); one of each from a person’s father, and one of each gene from a person’s mother.

Can you have a baby if you have thalassemia?

Women with thalassemia who require blood transfusions often have a higher rate of infertility. However, some women with the disease are able to become pregnant.

Which gene is affected by beta thalassemia?

Beta thalassemia is caused by mutations in the hemoglobin beta (HBB) gene.

What gender is thalassemia most common in?

Male patients were more frequently affected than females (92.3% vs. 88.0% in the spine and 88.5% vs. 82% at the femoral neck). Hypogonadal patients were found to be more frequently affected compared to eugonadal patients (94.1% in spine and 88.2% cyat the femoral neck compared to 89.5% and 81.6% respectively).

Can thalassemia patients get married?

Aim: With good care, patients with transfusion-dependent thalassemia major (TDTM) can reach older ages, marry and reproduce.

What is the difference between thalassemia minor and major?

Thalassemia minor is a mild form of the disease in which the patient inherits only one mutated gene and act as a carrier. Thalassemia major is a severe form of the disease that can cause serious illness. Thalassemia is a group of genetic blood disorders that is characterized by destruction of red blood cells and hemoglobin higher than normal.

What is alpha thalassemia vs. Beta thalassemia?

There are two major forms of thalassemia as alpha thalassemia and beta thalassemia. In alpha thalassemia, there is a decrease in the number of alpha globin chains whereas in beta-thalassemia it is the number of beta globin chains that goes down. This is the key difference between alpha and beta thalassemia.

How is thalassemia inherited?

Thalassemia is inherited in an autosomal recessive manner. The genes are present on the chromosomes for expressing the globin, which is important in formation of hemoglobin. Any mutation of these genes may cause thalassemia.

What is a beta Thal trait?

Beta thal trait, sometimes called beta thalassemia minor, is a mild form of beta thalassemia. In beta thalassemia trait, there is enough beta globin for normal health. Your baby may have a slightly lower hemoglobin (anemia).

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