Thalassemia is an inherited blood disorder. In people diagnosed with thalassemia, the red blood cells responsible for carrying oxygen to various parts of the body do not function properly and lead to drop in hemoglobin. A simple way to treat thalassemia includes frequent blood transfusion to ensure increase of hemoglobin levels.
India continues to be the country with the highest number of thalassemia cases. As per figures provided by the Health Ministry in 2018, India had the largest number of children with Thalassemia major (a severe form of the disease) in the world.
Simple guide to thalassemia
Dr S Manohar, Director, Internal Medicine, Sakra World Hospital, Bengaluru says “In those living with thalassemia, the body makes less hemoglobin, the protein in red blood cells which carries oxygen. They will have fewer circulating red blood cells than normal, which results in mild or severe anemia.” It can be easily detected through prenatal diagnosis and screening. Experts explain that severe forms of thalassemia can be managed with frequent blood transfusions and a thorough follow up with doctors.
Dr Shweta Bansal, senior consultant, pediatric haemato-oncology and BMT, NHSRCC Hospital, Mumbai explains, “Oxygen is the main source of energy in the body and if enough oxygen is not circulated, one may feel weak or tired. Our organs also start getting damaged, leading to several other complications.”
Symptoms of thalassemia
Dr Bansal says that some of the common symptoms of thalassemia include:
- Weakness
- Fatigue
- Frequent fevers that are not responding to treatment
- Abdominal swelling
- Pale appearance of the skin
- Difficulty in breathing
Types and severity of thalassemia
“Thalassemia is categorised into types based on the part of the hemoglobin that gets affected,” says Dr Bansal.
“Globin chains are structures in hemoglobin responsible for carrying oxygen from one part of the body to another. The globin chains cause defective thalassemics. Imagine a car as the hemoglobin in the body. It takes oxygen from one body part to another. The four tyres are the globin chains – the front two tyres are the alpha globin chain and the back tyres are the beta globin chain,” said Dr Bansal. She adds that when the front tyres are not functioning properly, it results in alpha thalassemia and when the back tyres are not functioning properly, it can result in beta thalassemia.
Dr Bansal adds that the most prevalent type of thalassemia is beta thalassemia.
Based on the severity of the disease, thalassemia is further classified into trait, minor, intermedia and major thalassemia. According to the US National Human Genome Research Institute a child who inherits one faulty gene is a carrier, also referred to as “thalassemia trait.” Most carriers lead completely normal, healthy lives.
Thalassemia in children
“Children born with thalassemia start showing symptoms from the age of three months to two years of age,” says Dr Suman Jain, pediatrician and CEO and secretary of Thalassemia and Sickle Cell Society (TSCS), a Hyderabad-based non-profit organisation focused on helping affected children.
Dr Jain says that some of the common signs in children are pale skin and frequent bouts of illness. “When parents take them to pediatricians for consultation, we would recommend a hemoglobin electrophoresis test, which measures the hemoglobin in the blood and a complete blood count test,” she adds.
Diagnosis and treatment
“It is easily detectable. Adults should get a hemoglobin A2 test, which will pick up hemoglobin-related disorders, before conceiving or during the first trimester of pregnancy,” says Dr Jain.
“When both partners have one defective gene, the woman should undergo a prenatal diagnosis at eight to ten weeks of pregnancy, called Chorionic Villus Sampling (CVS) to determine whether the child has major or a minor thalassemia,” recommends Dr Bansal.
Dr Bansal says that a bone marrow transplant, in which non-functioning cells in the bone marrow are replaced with healthy cells, is considered as the only cure when it comes to curing thalassemia.
“People with thalassemia major will require blood transfusions throughout their life. Blood transfusions themselves can cause complications – ranging from infections caused by the procedure itself to iron overload causing damage to organs of the body,” she says.
Explaining complications caused due to iron buildup, Dr Bansal says, “The excess iron that goes into the body through frequent transfusions gets stored in various organs of the body. There is no mechanism to expel this excess iron. The function of these organs is affected as cells in these organs slowly start dying. Excess iron in the liver can cause fibrosis and cirrhosis. Cardiomyopathy is caused due to excess iron in the heart. In the pancreas, it can cause hormonal problems and in the pituitary gland or thyroid, growth hormone gets affected,” she adds.
Dr Jain says that there are medicines that can remove the excess iron in the body caused by blood transfusion.
“Up-to-date vaccinations, nutritious meals, exercising and developing positive relationships are healthy choices recommended for people with thalassemia,” says Dr Manohar.
Takeaways
- Thalassemia is an inherited blood disorder passed on to children through defective genes.
- Anemia, abdominal swelling, pale appearance of the skin are some of the common symptoms.
- People with severe forms of the disease require frequent blood transfusions. A curative solution is a bone marrow transplant procedure.
