What chromosome is thalassemia found on?

What chromosome is thalassemia found on?

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).

What gene is thalassemia on?

Mutations in the HBB gene cause beta thalassemia. The HBB gene provides instructions for making a protein called beta-globin.

How is Thalassaemia diagnosed?

Diagnosis. Doctors diagnose thalassemias using blood tests, including a complete blood count (CBC) and special hemoglobin tests. A CBC measures the amount of hemoglobin and the different kinds of blood cells, such as red blood cells, in a sample of blood.

What is the genotype of alpha thalassemia?

The most common genotypes are the -α3.7 and –α4.2 deletion alleles (see Table 6 and Table 10). Genotype nomenclature. In the expression αα/αα, the first alpha in each pair (αα/αα) typically refers to HBA2 and the second alpha in each pair (αα/αα) to HBA1.

Why thalassemia is called Sea blood?

Thalassemia is an inherited disease of faulty synthesis of hemoglobin. The name is derived from the Greek word “thalassa” meaning “the sea” because the condition was first described in populations living near the Mediterranean Sea; however, the disease is also prevalent in Africa, the Middle East, and Asia.

Is thalassemia genetic or environmental?

Thalassemia is an inherited blood disorder that reduces the production of functional hemoglobin (the protein in red blood cells that carries oxygen). This causes a shortage of red blood cells and low levels of oxygen in the bloodstream, leading to a variety of health problems.

What is Thalassaemia trait?

Thalassemia is an inherited (i.e., passed from parents to children through genes) blood disorder caused when the body doesn’t make enough of a protein called hemoglobin, an important part of red blood cells.

How do I know if my baby has thalassemia?

What are the symptoms of beta thalassemia in a child?

1. Poor growth and development.
2. Pale skin.
3. Feeding problems.
4. Diarrhea.
5. Irritability, fussiness.
6. Fevers.
7. Enlarged abdomen from enlarged spleen.

Can you have a baby if you have thalassemia?

Can You Get Pregnant With Beta Thalassemia? Yes, but you may need help getting pregnant. Often, women with beta thalassemia will need to use medications to help them ovulate in order to become pregnant. Many health problems caused by beta thalassemia have to do with too much iron in your body.

Can you donate blood if you have alpha thalassemia?

It is a common practice worldwide to accept blood from thalassemic carrier donors who meet the minimum Hb level for blood donation [6]. However, the exception is not applied to Hb S carrier; neither apheresis nor whole blood donations are allowed.

What is thalassaemia trait?

What are the different types of thalassemia symptoms?

Thalassemia 1 Beta thalassemia. Beta thalassemia occurs when your body can’t produce beta globin. 2 Alpha thalassemia. Alpha thalassemia occurs when the body can’t make alpha globin. 3 Thalassemia minor. People with thalassemia minor don’t usually have any symptoms.

What kind of mutation does sickle beta thalassemia have?

[2] People affected by sickle beta thalassemia have a different mutation in each copy of the HBB gene: one that produces hemoglobin S and a second that is associated with beta thalassemia.

What causes a lack of beta globin in thalassemia?

Changes (mutations) in the HBB gene lead to reduced levels of beta globin and cause beta thalassemia. Loss (deletion) of some or all of the HBA1 and/or HBA2 genes results in a shortage of alpha globin, leading to alpha thalassemia.

What kind of blood test is used for alpha thalassemia?

Hemoglobin electrophoresis is used to diagnose beta thalassemia. Genetic testing is used to make a diagnosis of alpha thalassemia.