What is beta Thalassaemia Intermedia?

Beta-thalassemia intermedia is a genetic (or “inherited”) blood disorder that is sometimes called Cooley’s or Mediterranean anemia or sometimes simply called thalassemia. Beta- thalassemia intermedia, the milder form of the disorder, reduces the body’s ability to produce “adult” hemoglobin and causes anemia.

What clinical characteristics might a person with beta thalassemia intermedia exhibit?

What clinical characteristics might a person with beta thalassemia intermedia exhibit? Growth and development in children with beta thalassemia intermedia is usually normal and most patients have a normal life span. However, they can demonstrate splenomegaly and some facial bone deformity.

What are the symptoms of thalassemia intermedia?

Thalassemia intermedia: This type can cause symptoms of moderate to severe anemia including:

  • Extreme tiredness (fatigue)
  • Pale skin.
  • Slow or delayed growth.
  • Weak bones.
  • Enlarged spleen.

What are the clinical features of beta thalassemia?

In people with beta thalassemia, low levels of hemoglobin lead to a lack of oxygen in many parts of the body. Affected individuals also have a shortage of red blood cells (anemia ), which can cause pale skin, weakness, fatigue, and more serious complications.

How is beta thalassemia intermedia diagnosed?

Diagnosis is confirmed by a hemoglobin profile (also called electrophoresis). In beta thalassemia intermedia and trait, this testing reveals an elevation in hemoglobin A2 (a second form of adult hemoglobin) and sometimes F (fetal).

What is thalassemia and its symptoms?

When there are not enough healthy red blood cells, there is also not enough oxygen delivered to all the other cells of the body, which may cause a person to feel tired, weak or short of breath. This is a condition called anemia. People with thalassemia may have mild or severe anemia.

When is beta thalassemia intermedia diagnosed?

Many individuals with beta thalassemia minor go through life never knowing they carry an altered gene for the disorder. A beta thalassemia major diagnosis is usually made during the first two years of life and individuals require regular blood transfusions and lifelong medical care to survive.

What are the different types of beta thalassemia?

Beta thalassemia has three main forms – minor, intermedia and major, which indicate the severity of the disease. Individuals with beta thalassemia minor usually do not have any symptoms (asymptomatic) and individuals often are unaware that they have the condition.

What is the pathophysiology of beta thalassemia?

β thalassemia occurs when there is a quantitative reduction of β globin chains that are usually structurally normal. They are caused by mutations that nearly all affect the β globin locus and are extremely heterogeneous.