Thalassemia is an autosomal recessive blood disease, is an inherited genetic disorder. Thalassemia is a group of genetic disorders of the 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 anemia.
Description of Thalassemia
Thalassemia is a blood disorder in which quantitative abnormal hemoglobin, i.e. very less number of globin in hemoglobin. Genes that produce the protein present in hemoglobin called GLOBINS are altered in the 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 proteins is alpha and another is Beta.
Every hemoglobin molecule has both alpha and beta proteins. The connection of two alpha proteins to two beta proteins in the hemoglobin enhances the binding and release 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 fail 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 from Asia and black people have usually affected form Alpha Thalassemia. An untreated, severe form of alpha thalassemia leads to stillbirth.
Beta thalassemia: Commonly found in the 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
- 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.