Verified By May 26, 2022
Thalassemia is an inherited blood disorder that affects your body’s ability to produce haemoglobin. Individuals with thalassemia present with severe anemia and enlargement of liver and spleen needing medical treatment in the first two years of life. It is a common genetic disorder and in India about 10,000 -20,000 children are born every year with thalassemia. There are two types of thalassemia, alpha and beta thalassemia. Thalassemia is a genetic disorder caused due to changes in HBB, HBA1 or HBA2 gene.
Symptoms
Most infants or children less than 2 years of age present with:
Symptoms of thalassemia develop anytime from birth to the first two years of life. Some children having beta thalassemia or alpha thalassemia may show signs after 6 months of age due to fetal hemoglobin present in blood which later get replaced by normal haemoglobin whereas, some individuals may present with a milder form of anemia at a later age.
Diagnosis
Diagnosis of thalassemia is established by
Treatment
Mild forms of thalassemia may not require treatment but severe form require blood transfusions and other forms of medical treatment. Thalassemia treatment is done according to the type and seriousness of disorder. Some thalassemia treatments include:
Complications
If thalassemia becomes severe, it can lead to organ failure or can be fatal. Individuals with mild to severe thalassemia may face complications such as:
Genetics of thalassemia
Each haemoglobin molecule contains two chains of Alpha chains and beta globin. Genes are letters or codes that provides instructions to our body for every function. For every gene, we receive two copies, one from each parent. Changes in this code can affect the function of alpha or beta globin in turn producing a defective haemoglobin molecule. Thalassemia is an autosomal recessive condition, an individual who is affected inherits two genetic changes, one from each parent. Parents who have one genetic change but has a second normal working copy of the gene is known as a carrier and is usually unaffected or mildly affected with anaemia.
In beta thalassemia: we receive two copies of the HBB gene from each parent. Beta thalassemia is caused by inheritance of two genetic changes in the HBB gene, one from each parent. However, the severity of the disease depends upon the effect of genetic change on the production of the beta globin.
Genetic counselling, Preconception & Prenatal testing
Genetic counselling is a process of providing individuals and families with information regaring the disease, management, treatment, understanding the risk of inheritance and options for prevention or early detection. Genetic counsellors are specialised health care who have expertise in medical genetics as well as counselling who can help families in managing and adjusting to the genetic disease. Couples with personal or family history of thalassemia are recommended to meet with a genetic counsellor or geneticist to understand the risk of inheritance and risks to other family members. Couples who are planning for a family can discuss genetic testing options. Couples who are pregnant can opt for genetic testing during the pregnancy to understand if the fetus is a affected.
In case of couple opting for assisted reproductive technology such as in vitro fertilization (IVF), screening of embryo for genetic defects can be done before implantation.
It is recommended to undergo thalassemia screening to all women planning for pregnancy regardless of personal or family history of thalassemia. Genetic counsellors are experts in addressing social, ethical or legal challenges. A counselling session can be helpful to understand the risks, benefits and limitations of genetic testing.
Inputs by Ms. Neeraja Malleda, Genetic Counselor, Apollo Hospitals Navi Mumbai
August 26, 2024
August 26, 2024
April 18, 2024