World Thalassemia Day: The oxygen-carrying protein in the blood, commonly known as hemoglobin, and red blood cells are less abundant than normal in people with thalassemia, a genetic condition. This further contributes to physical weakness, fatigue and stunted growth. While milder types of the disease may not require therapy, more severe ones may demand donor stem cell transplants or blood transfusions.
World Thalassemia Day will be celebrated on 8 May. This year the theme of World Thalassemia Day is ‘Be aware’. share. Care.’ The day is dedicated to raising awareness about hereditary blood disorders.
What is Thalassemia?
People with thalassemia, an inherited blood disorder, produce less hemoglobin, the protein in red blood cells that carries oxygen throughout the body. This condition causes abnormal or low red blood cells, which can lead to anemia and other problems.
In an interview with Zee English, Dr. Sunil Parekh, Consultant Hematologist, SL Raheja Hospital, Mahim – A Fortis Associate explains more about this blood disorder and how it can affect children and become a serious condition .
Dr Parekh says, “Thalassemia is an inherited blood disorder characterized by low levels of functional hemoglobin, an important protein found in red blood cells, which is responsible for carrying oxygen from the lungs and carrying it to all tissues throughout the body. And does the important work of reaching the organs.
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 inherits one defective beta thalassemia gene from the mother and one defective beta thalassemia gene from the father. Inheriting this type of defective beta globin gene from both parents results in very low hemoglobin levels in such children since childhood. They have to depend on regular transfusion of packed red blood cells for their entire life for their growth, day to day activities, schooling, sports etc.
Signs and Symptoms of Thalassemia
Children may experience the following symptoms:
– fatigue and weakness
– pale and pale skin
– trouble eating
– impaired physical development
– delayed sexual maturity
– deformity of the facial bone
– 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 composition of the child’s hemoglobin. Similar blood tests are also needed for both parents to look for the mutated globin gene. “Planning for future pregnancies should be done with the understanding that prenatal assessment of the product of conception is mandatory at approximately 8-10 weeks of pregnancy (first trimester of pregnancy),” says Dr. Parekh.
Palliative Supportive Treatment of Thalassemia
Treatment of thalassemia consists of regular red blood cell transfusions (at approximately 2–4 week intervals). Blood donors should be thoroughly screened for blood group compatibility and exclusion of communicable diseases. Donors should not be genetically related to the patient.
Dr. Parekh commented, “Patients with thalassemia have another genetic abnormality, an overload of ‘iron’ in their body. This iron is toxic and gets deposited in the skin and major organs of the body, leading to Resulting in vital organ dysfunction which can lead to death. These patients must be treated with ‘Iron Chelation’ drugs on a very strict protocol, with regular monitoring of blood ‘Iron and Ferritin’ levels, and Iron in vital organs test for deposition.
Patients should be cared for in specialized thalassemia centers by medical specialists, who collaborate with other health professionals in various medical disciplines to provide multidisciplinary, holistic care. If thalassemia patients follow conventional medicine strictly and if they are managed properly, although they cannot be cured, they can enjoy a good quality of life and have a significantly longer life expectancy. Can
Potentially Curative Treatment Options for Thalassemia
1. Allogeneic Stem Cell Transplantation from Healthy Fully Matched Sibling Donors
2. Haplo-identical, partially matched related familial donors—parents or siblings
3. Gene therapy – using patients’ own autologous stem cells
Regular checkups with your doctor will help you keep track of your symptoms and manage any potential consequences.