How is thalassemia caused?

Author: Cassandra Kuhlman  |  Last update: Monday, April 25, 2022

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.

How does thalassemia occur?

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 thalassemia is inherited?

Both types of thalassemia are inherited in the same manner. The disease is passed to children by parents who carry the mutated thalassemia gene. A child who inherits one mutated gene is a carrier, which is sometimes called "thalassemia trait." Most carriers lead completely normal, healthy lives.

Where did thalassemia originate from?

Thalassemia, or Mediterranean anemia, was first described in 1925 by a Detroit physician who studied Italian children with severe anemia (low levels of red blood cells), poor growth, huge abdominal organs, and early childhood death. In 1946, the cause of thalassemia was found to be an abnormal hemoglobin structure.

What mutation causes thalassemia?

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).

Beta Thalassemia - causes, symptoms, diagnosis, treatment, pathology

Where is thalassemia found?

It is found in people of Mediterranean descent, such as Italians and Greeks, and is also found in the Arabian Peninsula, Iran, Africa, Southeast Asia and southern China. There are three types of beta thalassemia that also range from mild to severe in their effect on the body. Thalassemia Minor or Thalassemia Trait.

Who is at risk for thalassemia?

Certain ethnic groups are at greater risk: Alpha thalassemia most often affects people who are of Southeast Asian, Indian, Chinese, or Filipino descent. Beta thalassemia most often affects people who are of Mediterranean (Greek, Italian and Middle Eastern), Asian, or African descent.

How did thalassemia evolve?

Thalassemias are inherited blood disorders that are found in high prevalences in the Mediterranean, Southeast Asia and the Pacific. These diseases provide varying levels of resistance to malaria and are proposed to have emerged as an adaptive response to malaria in these regions.

What is thalassemia trait?

People who have thalassemia trait (also called thalassemia minor) carry the genetic trait for thalassemia but do not usually experience any health problems except perhaps a mild anemia. A person may have either alpha thalassemia trait or beta thalassemia trait, depending upon which form of beta protein is lacking.

How common is thalassemia in the world?

Thalassemia affects approximately 4.4 out of every 10,000 live births throughout the world. This condition causes both males and females to inherit the relevant gene mutations equally because it follows an autosomal pattern of inheritance with no preference for gender.

What blood causes thalassemia?

Conclusions: On analysis, it was found that the most common blood group getting affected by the disease ß-thalassemia is O +ve with the same people having higher chances of family history of the same disease.

At what age is thalassemia detected?

Most children with moderate to severe thalassemia receive a diagnosis by the time they are 2 years old. People with no symptoms may not realize that they are carriers until they have a child with thalassemia. Blood tests can detect if a person is a carrier or if they have thalassemia.

Can two thalassemia minor get married?

Thalassemia, related to the reduction in red blood cells, is rapidly increasing in India forcing doctors to make a fervent appeal for improved awareness and preventive measures at primary and social levels. No two Thalassemia minor patients should be allowed to marry.

Can you get thalassemia later in life?

When the disorder develops later during life, a diagnosis of beta thalassemia intermedia is given; individuals may only require blood transfusions on rare, specific instances. Beta thalassemia major, also known as Cooley's anemia, is the most severe form of beta thalassemia.

Can thalassemia lead to death?

Severe thalassemia can cause early death (between ages 20 and 30) due to heart failure. Getting regular blood transfusions and therapy to remove iron from the body helps improve the outcome. Less severe forms of thalassemia often do not shorten lifespan.

How long do thalassemia patients live?

“Most thalassaemia patients would live up to the age of 25 to 30 years. Improved facilities will help them live up to the age of 60,” said Dr Mamata Manglani, head of pediatrics, Sion hospital.

What if both parents have thalassemia?

If both parents have the beta thalassaemia trait, there's a: 1 in 4 chance each child they have will not inherit any faulty genes and will not have thalassaemia or be able to pass it on. 1 in 2 chance each child they have will just inherit a copy of the faulty gene from 1 parent and be a carrier.

How do I know if I am a thalassemia carrier?

You can find out if you're a carrier of thalassaemia by having a simple blood test. The NHS Sickle Cell and Thalassaemia Screening Programme also has detailed leaflets about being a beta thalassaemia carrier or a delta beta thalassaemia carrier.

Is anemia and thalassemia the same?

Anemia is a condition in which your body doesn't have enough normal, healthy red blood cells. Thalassemia is inherited, meaning that at least one of your parents must be a carrier of the disorder. It's caused by either a genetic mutation or a deletion of certain key gene fragments.

Why is thalassemia common in Asia?

Due to high rate of international migration, thalassemias are spreading to non-endemic parts of the world [2]. In many Asian countries, the most common form of thalassemia results from the coinheritance of beta thalassemia and HbE.

How thalassemia is 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 causes anemia?

Causes of anemia
  • Iron deficiency anemia. This most common type of anemia is caused by a shortage of iron in your body. ...
  • Vitamin deficiency anemia. ...
  • Anemia of inflammation. ...
  • Aplastic anemia. ...
  • Anemias associated with bone marrow disease. ...
  • Hemolytic anemias. ...
  • Sickle cell anemia.

What should I eat if I have thalassemia?

Nutrition is very important for many, especially those with thalassemia. Individuals are encouraged to eat a balanced diet consisting of protein, grains, fruits, and vegetables and may need to pay extra attention to ensure not getting high amounts of iron through their diet.

Why is iron bad for thalassemia?

People with thalassaemia may be advised to avoid iron supplements because they are at risk of iron overload. Carriers of the thalassaemia gene may be asymptomatic but pregnancy can precipitate anaemia and there is a chance that this may be inappropriately treated with iron replacement.

Does thalassemia minor affect fertility?

Barriers to fertility in women and men with thalassemia

A person with thalassemia may experience delayed puberty. Many of these patients eventually enter puberty. Some do not reach sexual maturity and have a complication called “hypogonadism.” This is due to a deficiency of hormones necessary for sexual maturation.

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