Thalassemia, at present, is one of the most challenging hematological disorders. Patients with ßthalassemia major need regular blood transfusions in order to live and the resulting iron overload requires chelation therapy. The problems facing them and their parents are immense, challenging them physically, emotionally and socially.
In the Maldives thalassemia affects about 0.16% of the population, and is found throughout the country, with the highest rate found in Kaafu atoll, most likely because an address in Maleʼ is given at the time of registration at the National Thalassemia Center (NTC). Apart from Kaafu atoll, the highest rates are found in Noonu, HDh and Laamu atolls.
To date a total of 670 cases have been registered at NTC. The number of new cases registered has not declined over the last five years, with about 28 new cases on average being registered over the last 7 years. Last year saw an increase to 39 in fact.
Considering that the country has two centers dedicated to thalassemia (Society for Health Education and NTC), and the government spends roughly $5000 per year per child for the treatment of a child with thalassemia above 12 years, this current trend raises questions whether these centers are doing enough for the prevention of thalassemia.
The current preventive program focuses on discouraging the marriage of carriers to one another, thus increasing the number of carriers throughout the country. And in Maldives where the social circles are small, the chance of intermarriage of careers is high. And their career status will not be a deterrence to getting married or having children. They will continue to take the risk and hope for that 75% chance of having a normal baby.
The approach has not helped in reducing the number of new cases as most of the children with thalassemia are being born sadly, to those who know their career status at the time of marriage, and to those who already have a child with thalassemia. This is an important observation that needs to be addressed in the prevention program as just the mere knowledge of the risk has not prevented couples from having children.
The goal of the program should be to lessen the burden of thalassemia in at-risk families, accomplished not only by providing information about the risk but also providing options for dealing with it by helping at-risk couples obtain prenatal diagnosis and selective abortion, or by helping them to cope with the birth of an affected child.
The current management protocol too needs revision to include oral iron chelators in the treatment. At present only a select few are being provided oral iron chelators at NTC as the treatment requires regular monitoring for side effects. Recommendations have already been made to the Ministry of Health and Family, in view of the considerable improvement in the serum ferritin levels in patients on combination therapy, to start the treatment at the regional levels, but its implementation is yet to materialize.
Adherence to the current management needs to be enforced more rigidly as reports of mismanagement are quite common at the regional and island level. Most doctors employed at the island level are not well versed with the disease and have different opinions regarding when to transfuse, how much to transfuse and how to give chelation therapy.
And sadly the psychosocial impact of the disease is completely ignored in the management. Compliance levels are lowest at the adolescent age group and it is essential that they get the proper psychosocial support including a clear understanding of the disease. In a survey conducted amongst adolescents at NTC, 90% did not believe that they had complications despite not complying with treatment and having their serum ferritin levels well above the target range. The extent of complications has yet to be documented.
A total of 140 of those registered have died so far, and from 1997 to 2007 each year about 8 children have died at the average age of 8 years. This young average age at death should be a matter of concern in a country where all aspects of treatment are free of cost and where treatment is readily available. No other single disease enjoys this level of commitment from the government and the statistics should be in favor of this support.
As it is the status of thalassemia in Maldives is not encouraging and revisions need to be made in both the preventive and treatment aspects. Genetic screening should be accompanied by improved counseling. Efforts should be directed towards prenatal diagnosis programs. Combination therapy for iron chelation needs to be started across the country at regional levels and psychosocial support for both the affected child and family should be given. A comprehensive program encompassing public education, screening for carriers, genetic counseling and prenatal diagnosis has markedly reduced the incidence of B-thalassemia major in several countries such as Cyprus and replication of such a program in the Maldives is necessary to lessen the burden of this preventable disease.
[Article contributed by Dr. Faisal Saeed]