Alfa Thalassemia : causes, symptoms, diagnosis, treatment


Thalassemia is a autosomal recessive blood disease, is an inherited genetic disorder. Thalassemia is a group of genetic disorders of blood, characterized by abnormal hemoglobin production. Due to abnormal hemoglobin, the number of hemoglobin decreases in the blood and destruction of RBC takes place due to genetic inheritance. Thalassemia is also called as Mediterranean anaemia.

Description of Thalassemia

Thalassemia is a blood disorder in which quantitative abnormal hemoglobin, i.e. very less number of globin in hemoglobin. Genes which produce the protein present in hemoglobin called GLOBINS are altered in case of Thalassemia. Hemoglobin is produced from two  sets of genes present on different chromosomes and produces two different pairs of protein.  One set of protein is alpha and another is Beta.

Every hemoglobin molecule has both alpha and beta protein. Connection of two alpha proteins to two beta proteins in the hemoglobin enhances binding and releasing of oxygen. Alpha protein is controlled by chromosome number 16 and beta protein is controlled by chromosome number 11. In thalassemia, when any one of these genes fails to produce any one of the protein, leads to Thalassemia. In alpha Thalassemia, one or more genes are missed and in case of beta thalassemia, genes are present but fails to produce normal hemoglobin.

Types of Thalassemia

Alpha thalassemia : Usually found southeast Asia . In this type of thalassemia, alpha protein synthesis is blocked due to genetic abnormality, resulting in abnormal hemoglobin production. Chinese, people form Asia and black people are usually affected form Alpha Thalassemia. Untreated, severe form of alpha thalassemia leads to still birth.

Beta thalassemia : Commonly found in mediterranean region and instead of beta protein is present, it becomes unable to produce beta protein, and causes beta thalassemia.

Causes of Thalassemia

  • Genetic inheritance,
  • Gene mutation,
  • Children may show the anaemia after age of two, due to inherited genes from parents,
  • Alteration in the hemoglobin chain,
  • Family history of thalassemia, etc.

Symptoms of Thalassemia

  • Fatigue,
  • Shortness of breath,
  • Icterus or Jaundice,
  • Facial bone deformity.

Diagnostic Tests of Thalassemia

On physical examination confirms Enlarged spleen,

Peripheral blood smear test shoes abnormal, small red blood cells,

Anaemia is confirmed from complete blood count.

Abnormal hemoglobin are found on Hemoglobin electrophoresis

Treatment of Thalassemia

Regular blood transfusion are necessary to treat severe Thalassemia. Folate supplements are also provided. Iron supplements and oxidative drugs are avoided in patients who receive blood transfusion.

Chelation Therapy : Is needed to remove iron form the body, from the patient who received regular blood transfusion.

Bone marrow transplantation is also used as a super speciality treatment of Thalassemia.

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