Hemoglobin disorders in the developing world: A perspective from Sri Lanka†

Abstract

Lakshman Perera gestured for the middle-aged woman and her preadolescent daughter to come over to the table and requested in Sinhalese that they please sit down, as he himself took a seat on the opposite side and examined the paperwork that he had been handed. He had also been given a lavender-top tube with a few milliliters of blood that he placed on a rack, while examining the paperwork. On the table, he was surrounded by racks full of tubes of blood and containers of high performance liquid chromatography (HPLC) reagents. The woman and her daughter had traveled 3 hr to come to this crowded laboratory in Ragama, Sri Lanka, which also served as a makeshift site for genetic counseling. A general practitioner in the countryside had suspected that the daughter may have been a carrier of β-thalassemia, given the results of routine blood tests. Therefore, they had made the trip to receive initial counseling and have hemoglobin HPLC screening performed on one of the few operational machines available in that country, which was generously provided by funds from the eminent British physician, Sir David Weatherall. During the course of the next 6 hr, Lakshman and his partner Suran Fernando would see almost 30 such patients and family members who traveled great distances to receive counseling and a diagnostic hemoglobin HPLC analysis. Concurrently, they divided the work of performing the hemoglobin analyses on the numerous samples that arrived at the laboratory and other biochemical studies for research from a countrywide survey of school children that they were performing.

Down the hall from this laboratory was the thalassemia transfusion unit. In a small room, which was ∼15 by 20 feet, there were four beds, adjacent to the windows, for patients staying in the unit overnight and on the opposite wall were six well-worn lounge chairs for patients coming in for treatment during the day, with two desks crammed into the far corner for the doctors and nurses to sit and take care of paperwork. On 6 of 7 days of the week, up to 20 or 30 patients with thalassemia major or intermedia would fill this room, many needing to sit on chairs because of a lack of room, to receive either blood transfusions or intravenous iron chelation therapy. Many of these patients traveled hours to come to this center, where the camaraderie and unquenchable smiles among these brave patients gave rise to hope. This unit had been established due to the obsessive dedication of Anuja Premawardhena, an overworked Sri Lankan physician. Anuja worked as a general internist at three separate hospitals (including the government teaching hospital where this unit was located), to make ends meet, and spent the remainder of his time overseeing this unit and the associated laboratory for hemoglobin disorders. He had assembled an equally dedicated clinical and laboratory staff, many of whom would work long hours into the night to ensure that all the patients would be cared for, all the laboratory tests would be performed, and no individual would be turned away from receiving the vital genetic counseling that they sought.

Although the work at this center offers incredible promise for what can be achieved to treat patients with these common genetic disorders in the developing world, it is unfortunately an unusual case. It is estimated that 2–3% of disability adjusted life years among children in Asia are attributable to the disorders of hemoglobin [1]. Similar statistics are likely to be present in Africa, although adequate epidemiological studies are lacking [1, 2]. These numbers are undoubtedly going to increase in the ensuing years as many countries make an epidemiologic transition with a concomitant reduction in morbidity and mortality due to the nutritional and infectious diseases that commonly claim the lives of infants with these disorders [3]. In contrast to the case in Sri Lanka, where the health ministry of the government has recognized the enormity of this problem and is, at least to a limited extent, willing to fund the expensive, but incredibly vital transfusion and iron chelation therapies needed by these patients, many countries have no such treatment programs in place. In addition to the recognition of the burden of these diseases by the various governments, an additional problem exists when healthcare is only available to those patients who can afford it. The majority of patients with disorders of hemoglobin live in the poorest parts of the world, where even the most basic of treatments can seem like a luxury, rather than a right. Sri Lanka is unusual among many of its neighbors, in that it is one of the few Asian countries where universal health care is available, helping to ensure that all patients with these diseases have access to adequate treatment options [3].

So, how can these problems best be addressed? The answer to this question is still not clear and much work remains to be done to begin to establish what approaches may work well. The acceptability of premarital counseling, prenatal diagnosis, or other potentially controversial approaches for reducing the incidence of these diseases will require a great deal of discussion at the local and regional levels. However, regardless of the consensus view on these topics, the availability of diagnostic services, as exemplified by the laboratory in Ragama, will be needed to provide confirmation of clinical diagnoses and give individuals the option to know whether they may be a carrier for one of these diseases [4]. It is also imperative that treatment units be established to ensure that these patients can receive vital therapy and to address the numerous complications of these diseases.

Clearly, the coffers of a single generous physician will not be able to address this problem. Although there is no doubt that local government agencies must take an important share of the responsibility for recognizing and addressing the health burden of the hemoglobin disorders, other resources are also vital for success in this arena. The valiant efforts of private foundations to address the communicable diseases that are prevalent in the developing world are truly laudable. However, it is important that these organizations not forget about the existence of the most common of the genetic diseases, which affect the hemoglobin molecule: sickle cell disease and the thalassemia syndromes. It is also important that government and private foundations dedicate resources to allow for partnerships between more developed nations and the developing countries where the hemoglobin disorders are so prevalent. There are many examples where such partnerships have been extremely vital in the search for advances in treatment and prevention [3]. The battle against AIDS is an important paradigm.

On the far wall of the thalassemia transfusion unit in Ragama, there is a display with representative symbols of all the religions found in that country. Although differences among these religious and ethnic groups have given rise to unfortunate conflict in Sri Lanka, individuals from all these groups are affected by these disorders of hemoglobin. In the context of their care at least, there is clear unification, with patients from multiple ethnicities lying in adjacent beds and being able to share a common experience. It is hoped that, in a similar manner, the world will be able to unite to be able to combat all aspects of human disease, including the global scourge of the hemoglobin disorders.