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Information About Thalassemia Disease

Thalassemia disease is a group of inherited autosomal recessive blood disorders, in which the body makes an abnormal form of hemoglobin, the protein in red blood cells that carries oxygen thus causing anemia, the characteristic presenting symptom of the thalassemias.

Thalassemia in British English written with the spelling of thalassaemia, history of thalassemia disease was originated in the Mediterranean region. It is an area at the lands around the Mediterranean Sea that have a Mediterranean climate, with mild, rainy winters and hot, dry summers. In the geography, It covers portions of three continents ; Europe, Asia, and Africa.

In the thalassemias cases, parents pass the genes for the disorder on to their children. Thalassemias usually result in underproduction of normal globin proteins, often through mutations in regulatory genes.

There are two main types of thalassemia :

  • Alpha (α) thalassemia occurs when a gene or genes related to the alpha globin protein are missing or changed (mutated). The α thalassemias involve the genes HBA1 and HBA2, inherited in a Mendelian recessive fashion.
  • Beta thalassemia occurs when similar gene defects affect production of the beta globin protein. Beta thalassemias are due to mutations in the HBB gene on chromosome 11, It's also inherited in an autosomal-recessive fashion.

From types of thalassemia disease above, there are two forms of thalassemia including Thalassemia major (the thalassemia is transmitted from the defective gene of both parents) and Thalassemia minor (It is occurs if you receive the defective gene from only one parent). Beta thalassemia major is also called Cooley's anemia.

Signs and symptoms of thalassemia :

Signs and symptoms of thalassemia disease depend on the type and severity of thalassemia case on patient. The most severe form of alpha thalassemia major causes stillbirth (death of the unborn baby during birth or the late stages of pregnancy). Some babies show signs and symptoms of thalassemia at birth, while others may develop signs or symptoms during the first two years of life.

Generally, sign and symptoms of thalassemia disease are Fatigue, Weakness, Shortness of breath, Irritability, Yellow discoloration of skin (jaundice), Pale appearance, Facial bone deformities, Abdominal swelling, Slow growth, and Dark urine

Examinations, Test and Diagnosis of Thalassemia Disease :

In the examination, may doctor will check is there any swollen (enlarged) on patient's spleen by palpation test. A blood sample will be taken and sent to a laboratory for examination of complete blood count (CBC), Red blood cells (RBC), and hemoglobin electrophoresis.

There is also test called mutational analysis, it can help detect alpha thalassemia that cannot be seen with hemoglobin electrophoresis. If the result is CBC appear as anemia, appear small and abnormally shaped on the RBC, and presence of an abnormal form of hemoglobin, the medical team or the doctor will put suspect of thalassemia case.

Management or treatment of Thalassemia disease :
  • Regular blood transfusions and folate supplements
  • Stem cell or bone marrow transplant
  • Giving medication therapy which can reduce sign and symptom may appear


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