Thalassemia

THALASSEMIA

Thalassemia is defined as an blood disorder that is inhereted, pass down through families. It makes an abdornam form of hemoglobin. Hemoglobin is the protein in red blood cells and used to carry oxygen. Thalassemia results in excessive destruction of red blood cell and anemia. It's sometimes called as Mediterranean anemia, cooley's anemia, Beta thalassemia and Alpha Thalasemia.

Thalassemia is caused by a defect in a gene that control productions of Alpha globin and beta globin. Both of them is part of Hemoglobin. That's why thalasemia is devided into two main types: Alpha thalasemia and Beta thalasemia.

Alpha thalassemia occurs when the alpha globin proteins are missing, changed or mutated. It most common in person from southeast Asia, Middle Eas, China, and African descent. It can be Thalassemia major or Thalassemia Minor

Beta thalassemia occurs when the beta globin are missing, changed or mutated. This type occurs mostly in person of mediterranean and lesser extent in person of China, other Asians, and African Americans. Same as Alpha thalassemia, Beta thalassemia can also be Talassemia major or Thalassemia minor.

Thalassemia major occurs when the defective gene is inherited from both parents while in thalassemia minor, the defective is inherited only from one parent.

Symptoms:

• 
  
  Stillbirth (death of the unborn baby during birth)
• 
  
  Severe anemia
• 
  
  Face bone deformities
• 
  
  Failure on growt
• 
  
  Fatique
• 
  
  Jaundice (Yellow skin)
• 
  
  Shorness of breath

How To Diagnose Thalassemia

Thalassemia can be diagnosed by a physical exam, blood sample, or mutational analysis.

On physical examination, patien with thalassemia may have a swollen (enlarged) spleen. On blood examination it can be found as small and abnormally shaped of red blood cells, less of complete blood count (anemia), and abnormal hemoglobin on hemoglobin electrophoresis. If the deases is not defined by hemoglobin electrophoresis then mutational analysis can help to detect alpha thalassemia.

Treatments

Treatmen involves blood transfusions and folate supplements. When blood transfusions are done, patient should not take iron supplements to avoide high amount of iron in the body that can be harmful. Chelation therapy will be dont to remove iron from the body especialy to a patient who receives significant numbers of blood transfusions. Bone marrow transplant is one of treatment for some patients, especially children.

When thalassemia is not treated properly it can be a trigger for heart failure and liver problems.

For prevention of thalassemia it is a good reason for parent to get genetic counseling and prenatal screening especially for those who has family history of this condition.