Thalassaemia in children: from quality of care to quality of life

Abstract

Over the past few decades, there has been a remarkable improvement in the survival of patients with thalassaemia in developed countries. Availability of safe blood transfusions, effective and accessible iron chelating medications, the introduction of new and non-invasive methods of tissue iron assessment and other advances in multidisciplinary care of thalassaemia patients have all contributed to better outcomes. This, however, may not be true for patients who are born in countries where the resources are limited. Unfortunately, transfusion-transmitted infections are still major concerns in these countries where paradoxically thalassaemia is most common. Moreover, oral iron chelators and MRI for monitoring of iron status may not be widely accessible or affordable, which may result in poor compliance and suboptimal iron chelation. All of these limitations will lead to reduced survival and increased thalassaemia-related complications and subsequently will affect the patient's quality of life. In countries with limited resources, together with improvement of clinical care, strategies to control the disease burden, such as public education, screening programmes and appropriate counselling, should be put in place. Much can be done to improve the situation by developing partnerships between developed countries and those with limited resources. Future research should also particularly focus on patient's quality of life as an important outcome of care.

Quality of life outcomes in thalassaemia patients in Saudi Arabia: a cross-sectional study

“…However, older patients had significantly lower scores for both the overall physical and mental summary components, which may have been due to the cumulative effects of long-standing diseaserelated complications. Children demonstrated worse HRQoL features than adults did in a global context (9). Only a few studies have reported on the effect of age on HRQoL.…”

“…The 2 main sources of iron overload are repeated transfusions and increased intestinal iron absorption (8). In high-income countries, provision of safe blood transfusions, oral and parenteral iron chelating agents, noninvasive and regular iron monitoring, plus many other methods of supportive care, are among the numerous measures implemented to prevent disease-related complications and improve outcomes for thalassaemia patients (9,10). However, in countries with limited resources, these measures are difficult to adopt and sustain, especially with other challenges complicating transfusion therapy, such as red cell alloimmunization (11,12), transmission of chronic infections (11)(12)(13), iron overload leading to tissue injury and end-organ damage (14,15), and adverse effects associated with chelating agents (15).…”

The Outcomes of Patients with Haemoglobin Disorders in Cyprus: A Joined Report of the Thalassaemia International Federation and the Nicosia and Paphos Thalassaemia Centres (State Health Services Organisation)

“…The complexity of services that are necessary for patient survival and wellbeing puts a significant burden on healthcare systems as well as on patients and their families. Any reduction in quantity or quality of services brings with it a reduction in desired outcomes [4]. This in turn creates the need for more usage of inpatient and intensive care services and raises the cost of care even further or results in premature death.…”

Genome-based therapeutic interventions for β-type hemoglobinopathies

“…In the last few years, carriers with β-types of hemoglobinopathies have significantly increased and new cases have spread to the surrounding areas, such as the Caribbean islands, and part of North America due to migration [ 7 – 10 ]. Approximately, 300,000 to 400,000 newborns are detected with a serious hemoglobin disorder, per annum and the vast majority, up to 90%, are derived from low or middle-income countries [ 11 , 12 ]. Based on the above, the gradual increase of the incidence rates alongside the current geographical distribution of the β-type hemoglobinopathies leading to its serious widespread.…”