Beta Thalassemia

Beta Thalassemia

Prevalence

People whose hemoglobin does not produce enough beta protein have beta thalassemia. 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 and India & Pakistan.

Type of Beta Thalassemia

  • Thalassemia Minor or Thalassemia Trait
  • Thalassemia Intermedia
  • Thalassemia major

Thalassemia Minor or Thalassemia Trait

In this condition, the lack of beta protein is not great enough to cause problems in the normal functioning of the hemoglobin. A person with this condition simply carries the genetic trait for thalassemia and will usually experience no health problems other than a possible mild anemia.

Thalassemia Intermedia

Thalassemia Intermedia has an extra ordinary wide clinical spectrum which includes mild and sever end. In case of mild end the person is asymptomatic until adult life ,while in case of sever end there is an early presentation between 2-6 years and that is why there is a borderline between thalassemia intermedia and the most severe form, thalassemia major, which can be confusing. Three main factors are responsible for clinical sequel of Thalassemia intermedia.

  • Ineffective erythropoiesis
  • Chronic Anemia
  • Iron Overload

Thalassemia Major or Cooley ’s anemia

This is the most severe form of beta thalassemia in which the complete lack of beta protein in the hemoglobin causes a life-threatening anemia that requires regular blood transfusions and extensive ongoing medical care. These extensive, lifelong blood transfusions lead to iron-overload which must be treated with chelation therapy to prevent early death from organ failure.

Clinical Diagnosis

Beta Thalassemia Major

  • Age 4 – 6 months or a child younger than 2 years of age .
  • Anemia
  • Hepatosplenomegaly
  • Jaundice
  • Thalassaemia Facies
  • Growth failure & retardation

Beta Thalassemia Intermedia

  • Milder Anemia
  • Extensive Thalassemia Facies
  • Hepatosplenomegaly

Alpha Thalassemia Treatment

  • Preventive & supportive
  • Folic acid supplements if evidence of hemolysis.
  • Avoid oxidative compounds medications.
  • Avoid iron therapy unless iron deficiency documented and periodic monitoring of iron overload.
  • Prompt treatment of infections.
  • Splenomegaly: If marked splenomegaly consider pre splenectomy work up & splenectomy.
  • Special attention for pregnant women with HbH.
  • Risk of fetal neural tube defect. Folic acid supplements during periconceptual period and beyond.
  • Iron supplements if iron deficient
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