Thalassemia major is an inherited hemoglobin disorder that results in chronic hemolytic anemia. The symptoms of the disease are due to both, hemolysis and dys-erythropoiesis. These patients require regular blood transfusions from about 6 months of life at a frequency of every 2-4 weeks. The need for packed red blood cells is lifelong and is required for survival, better quality of life, growth and to also compensate for severe anemia.
These patients develop iron overload both due to increased absorption of iron from the gastro-intestinal tract and also due to the iron received from the regular blood transfusions. This iron overload, if left untreated, results in the poor quality of life of such patients’ due to early endocrinopathies, which in turn causes growth failure, diabetes mellitus, hypothyroidism etc. and at a later stage, the lack of puberty. The most serious sequelae of iron overload is that it leads to hepatic fibrosis and cardiomyopathy – both of which contribute to early morbidity. To prevent these serious life-threatening complications, all thalassemia major patients require excellent lifelong iron chelation and monitoring of chelation efficacy to prevent the sequelae of secondary hemosiderosis. Other complications include transfusion transmitted infections, allo-immunization in some multi-transfused patients, and psycho-social issues. Fortunately, a few Indian patients are able to undergo curative therapies like allogeneic bone marrow transplant (BMT), as the Government of India provides support for children with a matched sibling donor to undergo BMT.
The life expectancy over the last 20 years for these patients’ has improved due to an increased understanding of the disease process, better blood transfusion practices, increased access to iron chelation medicines, newer strategies to monitor cardiac and hepatic iron overload and multi-modality treatment to manage complications. Unfortunately, even with these best practices, the chronic effect of toxic non-transferrin bound iron and free hemoglobin contributes to complications such as pulmonary hypertension, cardiomyopathies, hepatic fibrosis, kidney problems and in lower life expectancies in comparison to the normal population. As these patients get older, they are also prone to developing non-communicable diseases, thereby continuing their need for constant iron chelation, blood transfusion support. Additionally, they develop bone health problems, and bone health issues resulting in poor quality of life at this stage. This deterioration in bone health leads to constant pain, osteopenia, osteoporosis, and increased fracture risk. The etiology is multi-factorial with anemia, expansion of bone marrow, iron toxicity and endocrinopathies playing a major role. Other contributors to poor bone health are the chelation medicines, increased bone turnover, infections like hepatitis, nutritional deficiencies etc. Additionally, if a patient receives inadequate transfusion support, they sometimes develop extra-medullary masses which can lead to symptoms dependent on their site e.g. paralysis due to spinal or paravertebral masses. Patients with iron overload are susceptible to infections and during their fever, may need higher antibiotics or modification of some chelation medications.
Medical care is therefore required during the entire life trajectory of such patients and these high levels of medications and interventions can obscure the needs of such patients’. As physicians, we often tend to forget about the palliative needs of patients of thalassemia major. It is important to note that these needs vary as per the different stages of a patient’s life, and are also dependent on the complications suffered by a patient.
The current trend which presents longer survival rates for patients with thalassemia major, emphasize and highlight the need to focus on a patient’s Quality of life. Discussions which revolve around a patient’s employment, marriage and their other concerns and situations, which potentially affect their Quality of life, have now become routine and have also risen to the forefront.
There are several patient societies providing moral and social support to such patients and their families. Yet, stigma still exists and we are regrettably still diagnosing the births of babies (thalassemia major), even in those families with a known case of thalassemia major, either due to their inhibition to discuss inherited diseases or due to the infrequent cascade screening of families. If two thalassemia carriers (trait) persons get married, then they have a 25% risk of having a child with thalassemia major with each pregnancy; a risk which can be brought to zero if the couple opts for prenatal testing.
We, as doctors need to support the concept of self-care, by empowering our patients with the necessary information and skills, and by also facilitating access to good medical care. These patients can also be assisted to have self-efficacy in real life conditions. Improved public awareness and social mobilization improves the recognition of such individuals / families while also reducing the stigma present due to the lack of accurate information. Palliation in chronic lifelong conditions is therefore required for the amelioration of symptoms and support.
Though good standards of medical care can reduce complications and improve the quality of life and life expectancy, it can never completely avoid the need for ongoing, collaborative palliative care interventions.
Note: This article is a republication from the Indian Association of Palliative Care‘s June edition Newsletter.
About the Author: Dr. Tulika Seth, is a Professor at the Department of Hematology, at the All India Institute of Medical Sciences, New Delhi.
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