Rational approach to a Thalassemia patient
Thalassemia is one of the most common blood disorders in children. Unfortunately the disease burden is on a rise. The burning issue is that, are these patients getting appropriate and rational treatment. There are lots of queries among parents regarding modern management concepts. 'Google' is just not enough to handle these situations.
'Thalassemia is completely incurable disease', and 'blood transfusion is the only remedy', are two popular mass believes, especially in economically and academically compromised group. The latest Thalassemia management protocol advocates dealing with some particular issues. Any breach in these steps should raise question in proper management.
General care and Nutrition: A Thalassemia patient should have normal daily activities, mild physical exercise and reasonable outdoor playing. Schooling and future employment are to be ensured. Taking iron containing food along with proper chelation is an enthusiastic practice. Dental care and taking some micronutrient (e.g. Ca, vit-D, C, folate etc) are recommended. Fever and feature of any infections require urgent attention.
Blood transfusion: Availability of most appropriate blood product ( Solely RBC of youngest age) at a reasonable cost is still a challenge. Besides preventing transfusion related infections along with other hazards is a major concern.
Hemoglobin incrimination: Hemoglobin, the oxygen carrying vehicle is the cornerstone of Thalassemia disease. Though not as much effective as adult hemoglobin, induction of fetal hemoglobin has shown to improve quality of life and necessity of blood transfusion. Particularly use of Hydroxyurea by hematologist has been increasing in our country. But the potential life threatening side effects should be counseled first.
Splenectomy: Spleen is the organ where blood cells are broken down at the end of life span. Enlarged spleen size is a big problem. But proper chelation and hemoglobin incrimination resulting in stable spleen size are replacing concept of a harmful removal of spleen. So splenectomy is not encouraged unless some particular conditions.
Iron chelation: RBC breakdown and repeated blood transfusion result in accumulation of a large number of irons in blood, which are potentially to be deposited in vital organs of the body and to be life threatening. No Thalassemia management except removal of these excess irons, i.e. chelation, is complete. Cost of these drugs is another major concern among economically compromised families in our country. These drugs have some serious side effects too. We, the clinicians have a lot to work regarding this step of management.
Organ involvement in Thalassemia: Liver, heart and some endocrine glands are very prone to be affected in Thalassemia and related complications. Clinicians must check heart and liver related features. A Thalassemia patient should have his/her individual growth chart plotted to intervene early in possible growth retardation. Delayed puberty, infertility, diabetes, developmental disorder, fragile bone, seizures are some endocrine problems in these children.
Curative therapy: Stem cell transplantation is the only possible curative options in Thalassemia, so far. Huge financial support, availability of appropriate donor and potential chance of failure are some burning issues. But we cannot underestimate the hope of a better life and never stop trying. At least parents should know the current possibilities. 'Gene therapy' is another experimental chapter of complete cure.
Finally, I must say that there are lots of thing to do to prevent Thalassemia. Screening in family members of Thalassemia patient is increasing. More emphasis should be given on a 'compulsory pre-marital Thalassemia screening' programme. It's my humble urge to the authority to include basic concepts of Thalassemia in school textbooks.