Thalassemia care in Nepal: In dire need of improvement

In the developed world, thalassemia has become a disorder like any other chronic disease that requires regular follow-up [1]. Individuals with mild variants of the condition can have normal or almost normal lives, but those with severe types will need ongoing monitoring and treatment, including regular blood transfusions, iron chelation, or allogeneic stem cell transplantation. As of today, allogeneic stem cell transplantation is the only curative modality for thalassemia major. Gene therapy remains another hope [2], as well as novel agents like luspatercept [3]. Sickle cell disease and thalassemia are the most common hemoglobinopathies detected in Nepal. Sickle cell is more prevalent in thewestern regionofNepal, particularly amongTharuethnic groups. In contrast, the prevalence of thalassemia is widespread across the nation and all ethnic groups [4]. Thalassemia is associated with significant consumption of healthcare resources [5]. In Nepal, the financial burdens associated with thalassemia diagnosis and treatment have not been studied. We carried out this study to document the social–economic determinants, treatment challenges, and complications associated with β-thalassemia major in Nepalese thalassemia patients registered with the Nepal Thalassemia Society. Medical charts of 54 thalassemia major patients registered at the Civil Service Hospital were retrospectively analyzed to document demographics, height, weight, age of diagnosis, the total number of transfusions, transfusion frequency, and serum ferritin. Fifteen questionnaires were prepared, and each patient or patient relatives were interviewed, focusing mainly on transfusion adherence and adherence to iron chelation therapy. Tanner scoring to document sexual development was done on all patients on the same day of the interview. Themean,median, standard deviation, ranges and frequency, and percentage were calculated for the variables. The median age of the patients was 17 years (3–34 years), and the median age of diagnosiswas 18months (range 4–192months). Overall,

In the developed world, thalassemia has become a disorder like any other chronic disease that requires regular follow-up [1]. Individuals with mild variants of the condition can have normal or almost normal lives, but those with severe types will need ongoing monitoring and treatment, including regular blood transfusions, iron chelation, or allogeneic stem cell transplantation. As of today, allogeneic stem cell transplantation is the only curative modality for thalassemia major.
Gene therapy remains another hope [2], as well as novel agents like luspatercept [3]. Sickle cell disease and thalassemia are the most common hemoglobinopathies detected in Nepal. Sickle cell is more prevalent in the western region of Nepal, particularly among Tharu ethnic groups. In contrast, the prevalence of thalassemia is widespread across the nation and all ethnic groups [4]. Thalassemia is associated with significant consumption of healthcare resources [5]. In Nepal, the financial burdens associated with thalassemia diagnosis and treatment have not been studied. We carried out this study to document the social-economic determinants, treatment challenges, and complications associated with β-thalassemia major in Nepalese thalassemia patients registered with the Nepal Thalassemia Society.
Medical charts of 54 thalassemia major patients registered at the Civil Service Hospital were retrospectively analyzed to document demographics, height, weight, age of diagnosis, the total number of transfusions, transfusion frequency, and serum ferritin. Fifteen questionnaires were prepared, and each patient or patient relatives were interviewed, focusing mainly on transfusion adherence and adherence to iron chelation therapy. Tanner scoring to document sexual development was done on all patients on the same day of the interview. The mean, median, standard deviation, ranges and frequency, and percentage were calculated for the variables.  Table 2 represents complications of the disease and treatment.
To the best of our knowledge, this is the first study that sheds light on the reality of β-thalassemia major patients in Nepal. We observed that 72% (39) of patients had to interrupt regular blood transfusion due to the unavailability of packed red blood cells, let alone in the country's capital city, not even considering patients outside Kathmandu valley where intuitively unavailability would be higher.
Iron-cheating agents are known to improve the survival of thalassemia major patients and are therefore considered the backbone of thalassemia care [6]. World Health Organization has listed ironchelating agents in an essential medicine category [7]. The unavailability or frequent shortages of iron-chelating agents that are enlisted as an essential medicine is a significant concern. Furthermore, the finding of underdevelopment of sexual characteristics in 71.15% of patients secondary to inadequate iron chelation is very alarming. The right to health has been guaranteed in the constitution of Nepal. Therefore, we believe that it is the sole duty of the government to make these medicines available at any cost to improve thalassemia care in the country.
Bone marrow transplant is the only curative means of treatment for thalassemia major patients. If performed early, usually below 5 years of age, in an adequately chelated child, the cure rate approaches 90% [8]. In conclusion, thalassemia patients in Nepal deserve better care, and there is a dire need for short-and long-term plans to combat thalassemia. Currently, the best short-term goal would be to establish a heavily subsidized bone marrow transplant program in an experienced academic institution. In the long run, the government should invest more in improving the blood supply through national banking systems, launching effective screening and prenatal diagnosis campaigns, and developing a solution to tackle frequent shortages of iron-chelating agents.

AUTHOR CONTRIBUTIONS
Bishesh Sharma Poudyal designed the research and wrote the manuscript. Anirudra Devkota collected and analyzed the data. Peter Kouides revised the paper. All authors have read and approved the final version of the manuscript.

CONFLICT OF INTEREST STATEMENT
The authors declare no conflicts of interest.

ACKNOWLEDGMENTS
The authors have nothing to report.

FUNDING INFORMATION
None.

ETHICS STATEMENT
The study has been approved from Ethical Board Review of Nepal Thalassemia Society.

DATA AVAILABILITY STATEMENT
The data that support the findings of this study are available on request from the corresponding author. The data are not publicly available due to privacy or ethical restrictions.