Over the past few years, the founders of Hemoglobal® have primarily pursued research work in the inherited disorder, thalassemia, in Sri Lanka. Stimulated by the founders of Hemoglobal’s interest in thalassemia, and in particular in the form of thalassemia known as Hemoglobin E thalassaemia (which accounts for approximately half of severe beta thalassemia worldwide), this has been, in parallel with patient support, our primary focus of research work. Because our overall goal is to improve the quality of care for thalassemia patients, we are also underway in constructing a Registry of patients with individuals with thalassemia major and Hb E thalassemia at major centers throughout Sri Lanka to identify health needs in each centre.
Understanding the most common form of beta thalassemia in Asia
Our research work in Asia in recent years was initially stimulated by a particular academic interest in the form of thalassemia known as Hemoglobin E thalassaemia, which accounts for approximately half of severe beta thalassemia worldwide. Hemoglobin E thalassemia represents an increasingly severe public health problem throughout the Indian subcontinent and Southeast Asia, with high frequencies observed throughout India, Bangladesh, Thailand, Laos and Cambodia. Although formerly Hemoglobin E thalassemia was rarely diagnosed in North America and Europe, it is now the most common form of beta thalassemia identified within US newborn screening programs. Hemoglobin E thalassemia differs from other forms of beta thalassemia in several respects and demonstrates a remarkable heterogeneity of phenotype. While some children with HbE thalassemia suffer serious complications and essentially have a phenotype indistinguishable from thalassemia “major”, a substantial proportion may develop normally, with minimal transfusions.
Worldwide, the management of many children with Hemoglobin E thalassemia includes transfusions, often begun immediately following diagnosis without a clear indication. This practice carries the potential to induce preventable complications, including those arising from transfusion-acquired iron overload and viral infection and is wasteful of medical resources. Without a clear understanding of the natural history or how to identify the “mild” spectrum of disease in the early years of life, it has been difficult to develop rational programs for the control and management of Hemoglobin E thalassemia. Contributing to this understanding while working to improve the situation for patients in Sri Lanka and in Kolkata is one of the fundamental research goals of Hemoglobal®. Our long-term goal is to define the variable early clinical courses in a large number of patients to make it possible to identify children early in their clinical course who are likely not to require regular transfusions early, and/or who can be transfused only through a potential finite period of erythropoietic expansion. The effect of age on the phenotype has been noted in our previous studies, in which we reported instability of phenotype in many patients The overall purpose of this research, being conducted in both Sri Lanka and Kolkata, is a prospective systematic classification of disease severity in patients with Hemoglobin E thalassemia. In parallel, Hemoglobal is working to establish a medical record system and patient registry for all thalassemia patients including those with Hemoglobin E thalassemia and to develop standard of care guidelines for Hemoglobin E thalassemia.
A prospective observational cross sectional study to define, describe and compare health parameters and complications of thalassemia major in approximately 1500 patients with thalassemia major in selected hospitals in Sri Lanka.
This study aims to identify health needs in individuals with thalassemia major at major centers throughout Sri Lanka. Chart review will identify the survival and complications occurring at each selected center, including The National Thalassemia Center, Kurunegala; Ragama Teaching hospital’s Thalassemia center; Badulla Provincial General Hospital Batticoloa District General Hospital; Anaradaphura District General Hospital; and Jaffna District General Hospital. We are presently undertaking this project and plan to examine the data of 1,500 patients with thalassemia.