World Thalassemia Day: The oxygen-carrying proteins in the blood, commonly known as haemoglobin, and red blood cells are less abundant than usual in people with thalassaemia, a genetic condition. This further contributes to physical weakness, weariness, and sluggish development. While milder types of the illness might not need therapy, more severe ones can call for donor stem cell transplants or blood transfusions.
World Thalassemia Day will be observed on May 8. This year, the theme of World Thalassemia Day is ‘Be aware. Share. Care.’ This day is dedicated to raising awareness about inherited blood disorder.
What is Thalassemia?
People with thalassemia, a hereditary blood disorder, generate less haemoglobin, the protein in red blood cells that carries oxygen throughout the body. This condition causes abnormal or fewer red blood cells, which can cause anaemia and other problems.
In a interview with Zee English, Dr Sunil Parekh, Consultant Hematologist, SL Raheja Hospital, Mahim-A Fortis Associate shared more about this blood disorder and how it can affect children and become a serious condition.
“Thalassemia Is an inherited blood disorder characterized by reduced levels of functional Haemoglobin, a vitalprotein found in red blood cells, having the critical function of picking up Oxygenfrom the lungsand delivering itto all the tissues & organsthroughout the body,” says Dr Parekh.
How is Thalassemia inherited?
Human genes come in pairs. A child receives one set of genes from the mother and one set of genes from the father. In Beta Thalassemia Major, the child has inherited a defective beta Thalassemia gene from the mother and a defective beta Thalassemia gene from the father. The consequence of inheriting such defective Beta Globin Genes from both parents is that such children have very low levels of haemoglobin from infancy. They have to depend on regular transfusions of packed red blood cells for their growth, day-to-day activities, schooling, sports, etc., for their lifetime.
Symptoms & Signs of Thalassemia
Children can experience the following symptoms:
– Fatigue and weakness
– Pale and yellowish skin
– Feeding difficulties
– Delayed sexual maturation
– Facial bone deformities
– Enlargement of the spleen
Diagnosis of Thalassemia
If your doctor suspects that your child may have thalassemia, the diagnosis can be confirmed by appropriate blood tests including a complete blood count and genetic (DNA) analysis of the structure of the child’s haemoglobin. Similar blood tests are also required for both parents to look for the mutated globin genes. Dr Parekh says, “Planning future pregnancies should be done with an understanding that penatal evaluation of the product of conception is mandatory at about 8-10 weeks of gestation (first trimester of pregnancy).”
Palliative Supportive Treatment of Thalassemia
The treatment of thalassaemia consists of regular red blood cell transfusions (at approximately 2-4week intervals). Blood donors should be thoroughly screened for blood groupcompatibility and for the exclusion of communicable diseases. Blood donors should not be genetically related to the patient.
Dr Parekh remarks, “Thalassemia patients have another genetic abnormality, their bodies get overloaded with ‘Iron’. This iron is toxic and gets deposited in the skin andin major organs of the body, resulting in critical organ dysfunction which can lead to death. Thesepatients must be treated with ‘Iron Chelation’ medicines on a very strict protocol, with regular monitoring of blood ‘Iron & Ferritin’ levels, and tests for Iron deposition in vitalorgans.”
Patients must be taken care of in specialized thalassaemia centers by medical specialists who collaborate with other healthcare professionals across various medical disciplines to provide multidisciplinary, holistic care. If thalassemia patients are strictly compliant with conventional therapy and if they are managed properly,although they cannot be cured,they can enjoya reasonably good quality of life and achieve a fairly long-life expectancy.
Possible curative treatment options for Thalassaemia
1.Allogeneic Stem Cell Transplantation from healthy fully matched sibling donors
2. Haplo-identical, partially matched relatedfamily donors- parents or siblings
3. Gene Therapy – using Autologous stem cells of the patients themselves
Regular check-ups with your doctor will help you keep an eye on your symptoms and handle any potential consequences.