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Definition

Thalassemia is a blood disorder passed down through families (inherited) in which the body makes an abnormal form of hemoglobin, the protein in red blood cells that carries oxygen. The disorder results in excessive destruction of red blood cells, which leads to anemia.

See also:

Alternative Names

Mediterranean anemia; Cooley's anemia; Beta thalassemia; Alpha thalassemia

Causes, incidence, and risk factors

Hemoglobin is made of two proteins: Alpha globin and beta globin. Thalassemia occurs when there is a defect in a gene that helps control production of one of these proteins.

There are two main types of thalassemia:

  • Alpha thalassemia occurs when a gene or genes related to the alpha globin protein are missing or changed (mutated).
  • Beta thalassemia occurs when similar gene defects affect production of the beta globin protein.

Alpha thalassemias occur most commonly in persons from southeast Asia, the Middle East, China, and in those of African descent.

Beta thalassemias occur in persons of Mediterranean origin, and to a lesser extent, Chinese, other Asians, and African Americans.

There are many forms of thalassemia. Each type has many different subtypes. Both alpha and beta thalassemia include the following two forms:

  • Thalassemia major
  • Thalassemia minor

You must inherit the defective gene from both parents to develop thalassemia major.

Thalassemia minor occurs if you receive the defective gene from only one parent. Persons with this form of the disorder are carriers of the disease and usually do not have symptoms.

Beta thalassemia major is also called Cooley's anemia.

Risk factors for thalassemia include:

  • Asian, Chinese, Mediterranean, or African American ethnicity
  • Family history of the disorder
Symptoms

The most severe form of alpha thalassemia major causes stillbirth (death of the unborn baby during birth or the late stages of pregnancy).

Children born with thalessemia major (Cooley's anemia) are normal at birth, but develop severe anemia during the first year of life.

Other symptoms can include:

Persons with the minor form of alpha and beta thalassemia have small red blood cells (which are identified by looking at their red blood cells under a microscope), but no symptoms.

Signs and tests

A physical exam may reveal a swollen (enlarged) spleen.

A blood sample will be taken and sent to a laboratory for examination.

  • Red blood cells will appear small and abnormally shaped when looked at under a microscope.
  • A complete blood count (CBC) reveals anemia.
  • A test called hemoglobin electrophoresisshows the presence of an abnormal form of hemoglobin.

A test called mutational analysis can help detect alpha thalassemia that cannot be seen with hemoglobin electrophoresis.

Treatment

Treatment for thalassemia major often involves regular blood transfusions and folate supplements.

If you receive blood transfusions, you should not take iron supplements. Doing so can cause a high amount of iron to build up in the body, which can be harmful.

Persons who receive significant numbers of blood transfusions need a treatment called chelation therapy to remove excess iron from the body.

Bone marrow transplant may help treat the disease in some patients, especially children.

Expectations (prognosis)

Severe thalassemia can cause early death due to heart failure a, usually between ages 20 and 30. Frequent blood transfusions with therapy to remove iron from the body helps improve the outcome.

Less severe forms of thalassemia usually do not result in a shorter life span.

Complications

Untreated, thalassemia major leads to heart failure and liver problems, and makes a person more likely to develop infections.

Blood transfusions can help control some symptoms, but may result in too much iron which can damage the heart, liver, and endocrine system.

Calling your health care provider

Call for an appointment with your health care provider if:

  • You or your child has symptoms of thalassemia
  • You are being treated for the disorder and new symptoms develop
Prevention

Genetic counseling and prenatal screening may be available to those with a family history of this condition who are planning to have children.

References

Giardina PJ, Forget BG. Thalassemia syndromes. In: Hoffman R, Benz EJ, Shattil SS, et al., eds. Hematology: Basic Principles and Practice. 5th ed. Philadelphia, Pa: Elsevier Churchill Livingstone; 2008:chap 41.

DeBaun MR, Vichinsky E. Hemoglobinopathies. In: Kliegman RM, Behrman RE, Jenson HB, Stanton BF, eds. Nelson Textbook of Pediatrics. 18th ed. Philadelphia, Pa: Saunders Elsevier; 2007:chap 462.

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Related Questions

Are there other names for Thalassemia disease?

Alpha thalassemia silent carrierAlpha thalassemia minor, also called alpha thalassemia traitHemoglobin H diseaseAlpha thalassemia major, also called hydrops fetalisBeta thalassemia minor, also called beta thalassemia traitBeta thalassemia intermediaBeta thalassemia major, also called Cooley's anemia or beta-zero (ß0) thalassemiaBeta-plus (ß+) thalassemiaMediterranean anemia


Is thalassemia a type of cancer?

Thalassemia is an autosmal recessive blood disease. That means that it is an inherited disease. Thalassemia in more common in Mediteranian people.


What is classification of Thalassemia?

Thalassemia is classified mainly into two types: alpha thalassemia and beta thalassemia, based on which globin chain is affected. Alpha thalassemia occurs due to mutations in the alpha-globin genes, while beta thalassemia results from mutations in the beta-globin genes. Each type can further be categorized into various subtypes based on the severity of the condition, such as thalassemia minor (trait) and thalassemia major (Cooley's anemia). The classification helps determine the appropriate management and treatment strategies for affected individuals.


Can minor thalassemia carrier and alpha marry?

Yes, A "carrier" of alpha thalassemia and of beta thalassemia can marry, but not to someone with any hemoglobinopathy. Prof. Kornfeld Pal


Can mild thalassemia be a major thalassemia?

No. A minor form of the blood disorder thalassemia is when you inherited just one beta thalassemia gene, along with a normal beta-chain gene. This manifests as mild anaemia with a slight lowering of the hemoglobin level in the blood. No treatment is require. By contrast, a thalassemia major, also known as Cooley's Disease, is when one is born with two genes for beta thalassemia and no normal beta-chain gene. This is a serious disorder.


I am a thalassemia patient.i have to transfuse blood regulerly and im doin very well..my bf is goin to check for thalassemia...if he is a thala carrier and if we marry will we have a child like me?

If you have Thalassemia major but your boyfriend is not a carrier then the child will be born a healthy carrier (thalassemia minor) but shouldn't need blood transfusions. If your boyfriend is a carrier then you would have a 50% chance of having a child with thalassemia major like you do.


Is thalassemia hereditary?

yes


How long a human survive with thalassemia and with the recessive genes?

Those with thalassemia can expect to live until they are 50 or more.


What is a carrier of thalassemia?

A carrier of thalassemia, often referred to as having thalassemia trait, is an individual who possesses one normal hemoglobin gene and one mutated gene associated with thalassemia. This genetic condition typically does not cause significant health issues, but carriers can pass the mutated gene to their offspring. If both parents are carriers, there is a risk of having children with more severe forms of thalassemia, which can lead to serious health complications. Testing for thalassemia carriers is important for family planning and genetic counseling.


Will the child be free from thalassemia if you are alpha and father is beta thalassemia trait?

have seen one of my friends sister had kid and all normal no complications...not thalassemia either.........beta and alpha i think there is 25% normal chance


Why hepatomegaly occurs in thalassemia?

Hepatomegaly in thalassemia occures as aresult of engorgement of hepatic paranchymal and phagocytic cells with hemosiderin deposits.


Where did the blood disorder thalassemia originate?

There are several types of Thalassemia. It's believed to have originated in the Middle East & the Mediterranean areas.