Thalassemia is a genetic blood disorder characterized by decreased haemoglobin production. Thalassemia is a group of disorder which results in from an inherited abnormality of globin chain production. Often there is a mild to severe anaemia.

Anaemia can result in feeling tired and pale skin. This may also cause bone problems, an enlarged spleen and dark urine, low growth in children.

There are mainly two types of Thalassemia alpha Thalassemia and beta Thalassemia. Both Thalassemia has subtypes which are alpha Thalassemia minor, intermediate and major and Beta Thalassemia minor, intermediate and major. 

 Causes: –

 Inheritance: Thalassemia is primarily an inherited disorder caused by gene mutations passed from parents to their children. If both parents carry the abnormal genes, there is a higher risk of their child being born with Thalassemia.

Abnormal haemoglobin Pattern: Thalassemia occurs when there is a mutation or deletion in the genes responsible for producing alpha, beta and gamma globin chains, which are essential components of haemoglobin. This results in abnormal or insufficient production of haemoglobin.

Genetic Counselling and Testing: Family history of Thalassemia is advisable to undergo genetic counselling and testing before planning a pregnancy. This helps determine the risk of passing on the Thalassemia gene so that individuals to make informed decisions.

 If both parents are carrier of Thalassemia, prenatal testing can help identify if the foetus has inherited the disorder. Early detection can help in making decisions regarding the future care and treatment of the child.

 If both partners are carrier of Thalassemia, it is highly recommended to consult a genetic counsellor and discuss the risks before planning a pregnancy. In such cases, options like Pre-implantation Genetic Diagnosis (PGD) or adoption may be considered.

 Blood Transfusions and Chelation Therapy: Regular blood transfusions may be necessary for individuals with severe Thalassemia to maintain sufficient levels of healthy red blood cells. However, this can cause iron overload in the body, which requires chelation therapy to remove excess iron.

Proper Medical Management: Individuals with Thalassemia should receive appropriate medical care from healthcare professionals specialized in managing the disorder. This may include monitoring of blood counts, iron levels, and other related parameters, as well as timely provision of necessary treatments like blood transfusions, iron chelation therapy, and potential curative treatments like stem cell transplantation.

Education and Support: Patients and their families should be educated about Thalassemia, its implications, and the necessary precautions and treatments. Support groups and counselling services can provide emotional and practical support to individuals with Thalassemia and their families.

Precautions and management are important strategies may help the individual’s specific type and severity of Thalassemia.