What type of genetic disorder is beta thalassemia?

February 10, 2020 Off By idswater

What type of genetic disorder is beta thalassemia?

Beta thalassemia is an inherited blood disorder characterized by reduced levels of functional hemoglobin. Hemoglobin is found in red blood cells; it is the red, iron-rich, oxygen-carrying pigment of the blood. A main function of red blood cells is to deliver oxygen throughout the body.

What is the genotype for thalassemia?

Our results showed that all patients with thalassemia intermedia belong to β+β+ genotype while all patients with β°β° genotype presented with transfusion dependent thalassemia major.

What is the phenotype of beta thalassemia?

In beta+-thalassemia, the variable degree of reduction of beta globin chains results in severe (thalassemia major) to mild (thalassemia intermedia) clinical phenotypes. The imbalance of the alpha/beta + gamma ratio is similar to that in beta0-thalassemia major.

What is the most common genetic mechanism that causes beta thalassemia?

Thalassemia minor is clinically asymptomatic but some subjects may have moderate anemia. Beta-thalassemias are caused by point mutations or, more rarely, deletions in the beta globin gene on chromosome 11, leading to reduced (beta+) or absent (beta0) synthesis of the beta chains of hemoglobin (Hb).

How does a person inherit beta thalassemia?

People inherit the genes for beta thalassemia from their parents. A child gets one beta protein gene from the mother and one from the father: Someone who inherits the gene change in the beta protein from one parent has beta thalassemia minor (beta thalassemia trait).

How do you classify thalassemia?

The thalassemias are classified according to which chain of the hemoglobin molecule is affected. In α-thalassemias, production of the α-globin chain is affected, while in β-thalassemia, production of the β-globin chain is affected.

Is thalassemia dominant or recessive?

Thalassemia major and thalassemia intermedia are inherited in an autosomal recessive pattern , which means both copies of the HBB gene in each cell have mutations.

Where is beta thalassemia most common?

Beta thalassemia is a fairly common blood disorder worldwide. Thousands of infants with beta thalassemia are born each year. Beta thalassemia occurs most frequently in people from Mediterranean countries, North Africa, the Middle East, India, Central Asia, and Southeast Asia.

How is beta thalassemia treated?

Treatment for beta thalassemia may include:

  1. Regular blood transfusions.
  2. Medications (to decrease amount of iron in the body, called chelation therapy)
  3. Surgical removal of the spleen (if necessary)
  4. Daily doses of folic acid.
  5. Possible surgical removal of the gallbladder.
  6. No iron supplements.
  7. Bone marrow transplantation.