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Diseases » Thalassemia » Summary
 

What is Thalassemia?

What is Thalassemia?

  • Thalassemia: Thalassemia is an inherited blood disorder characterized by abnormal synthesis of hemoglobin. Hemoglobin consists of two main protein chains called alpha and beta. There are two subtypes of the disorder (alpha and beta) depending on what portion of the hemoglobin is abnormally synthesized. Each of these subtypes can be further classified depending on the number of thalassemia genes involved. A total of four genes is needed to make each ? protein chains and two genes are needed to make each ? chain. The main symptom is anemia, the severity of which can vary amongst patients depending on how many defective genes are involved.
  • Thalassemia: an inherited form of anemia caused by faulty synthesis of hemoglobin.
    Source - WordNet 2.1

Thalassemia is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH). This means that Thalassemia, or a subtype of Thalassemia, affects less than 200,000 people in the US population.
Source - National Institutes of Health (NIH)

Thalassemia: Introduction

Types of Thalassemia:

Types of Thalassemia:

Broader types of Thalassemia:

How many people get Thalassemia?

Prevalance of Thalassemia: 1,000 people with Cooley's anemia (NHLBI)
Prevalance Rate of Thalassemia: approx 1 in 272,000 or 0.00% or 1,000 people in USA [about data]

Who gets Thalassemia?

Race Profile for Thalassemia: Common in people of Italian or Greek descent. Also Mediterranean, North African or South-East Asians.

Geography Profile for Thalassemia: Common in Italy and Greece.

How serious is Thalassemia?

Complications of Thalassemia: see complications of Thalassemia
Deaths for Thalassemia: 20 deaths (NHLBI 1999)

What causes Thalassemia?

Causes of Thalassemia: see causes of Thalassemia
Causes of Thalassemia: Adult hemoglobin is composed of two alpha (a) and two beta (b) polypeptide chains. There are two copies of the hemoglobin alpha gene (HBA1 and HBA2), which each encode an a-chain, and both genes are located on chromosome 16. The hemoglobin beta gene (HBB) encodes the b-chain and is located on chromosome 11.

In a-thalassemia, there is deficient synthesis of a-chains. The resulting excess of b-chains bind oxygen poorly, leading to a low concentration of oxygen in tissues (hypoxemia). Similarly, in b-thalassemia there is a lack of b-chains. However, the excess a-chains can form insoluble aggregates inside red blood cells. These aggregates cause the death of red blood cells and their precursors, causing a very severe anemia. The spleen becomes enlarged as it removes damaged red blood cells from the circulation. (Source: Genes and Disease by the National Center for Biotechnology)
Risk factors for Thalassemia: see risk factors for Thalassemia

What are the symptoms of Thalassemia?

Symptoms of Thalassemia: see symptoms of Thalassemia

Complications of Thalassemia: see complications of Thalassemia

Can anyone else get Thalassemia?

More information: see contagiousness of Thalassemia
Inheritance: see inheritance of Thalassemia

Inheritance of genetic conditions: see details in inheritance of genetic diseases.

Thalassemia: Testing

Diagnostic testing: see tests for Thalassemia.

Misdiagnosis: see misdiagnosis and Thalassemia.

How is it treated?

Treatments for Thalassemia: see treatments for Thalassemia
Research for Thalassemia: see research for Thalassemia

Society issues for Thalassemia

Hospitalizations for Thalassemia: 4,000 (NHLBI 1999)

Hospitalization statistics for Thalassemia: The following are statistics from various sources about hospitalizations and Thalassemia:

  • 0.07% (9,233) of hospital consultant episodes were for thalassaemia in England 2002-03 (Hospital Episode Statistics, Department of Health, England, 2002-03)
  • 100% of hospital consultant episodes for thalassaemia required hospital admission in England 2002-03 (Hospital Episode Statistics, Department of Health, England, 2002-03)
  • 53% of hospital consultant episodes for thalassaemia were for men in England 2002-03 (Hospital Episode Statistics, Department of Health, England, 2002-03)
  • 47% of hospital consultant episodes for thalassaemia were for women in England 2002-03 (Hospital Episode Statistics, Department of Health, England, 2002-03)
  • 5% of hospital consultant episodes for thalassaemia required emergency hospital admission in England 2002-03 (Hospital Episode Statistics, Department of Health, England, 2002-03)
  • 1.9 days was the mean length of stay in hospitals for thalassaemia in England 2002-03 (Hospital Episode Statistics, Department of Health, England, 2002-03)
  • more statistics...»

Organs Affected by Thalassemia:

Organs and body systems related to Thalassemia include:

Name and Aliases of Thalassemia

Main name of condition: Thalassemia

Class of Condition for Thalassemia: genetic autosomal recessive

Other names or spellings for Thalassemia:

Beta thalassaemia (severe / homozygous) [thalassemia major], & #223;\&\#186; thalassemia [thalassemia major], Cooley's anaemia [thalassemia major] Source - Diseases Database

Thalassaemia, Mediterranean anemia, Mediterranean anaemia
Source - WordNet 2.1

Thalassemia: Related Conditions

Research the causes of these diseases that are similar to, or related to, Thalassemia:

 

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