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Public health issues in the thalassemic syndromes

Stanley L Schrier, MD
Section Editor
William C Mentzer, MD
Deputy Editor
Jennifer S Tirnauer, MD


Beta thalassemia occurs in the Mediterranean littoral and all over Southeast Asia (Burma, Thailand, Cambodia, Vietnam, China, Malaysia, Indonesia, and the Philippines). Alpha thalassemia is even more common, occurring with high frequency throughout all tropical and subtropical regions, including most of Southeast Asia, the Mediterranean area, the Indian subcontinent, the Middle East, and Africa [1,2].

Some variants of thalassemia (eg, hydrops fetalis with hemoglobin Bart's) are incompatible with life [3], while others (eg, beta thalassemia major) are associated with lifelong transfusion-dependent anemia, short stature, facial abnormalities, delayed or absent puberty, and attendant stigmas and psychosocial problems [4,5].

Of major public health importance, individuals with one of the various forms of thalassemia trait may be entirely asymptomatic, unaware of their diagnosis, and procreate with other individuals with the same trait, thereby perpetuating the disorder within these communities. (See "Clinical manifestations and diagnosis of the thalassemias".)

An interesting anecdote illustrates our changing perceptions about these disorders. Thalassemia was not diagnosed in Cyprus before 1944 [1]. After World War II, following improvements in public health along with malarial eradication programs, it became apparent that there was a newly recognized but common hypochromic microcytic anemia in children not due to iron deficiency (ie, severe beta thalassemia) [4]. It was quickly realized that, for example, the cost of red blood cell transfusions and chelation therapy per year for a patient with beta thalassemia major exceeded by three to four orders of magnitude the per capita funds available for health care in that country, as well as in much of the developing world.

By 1970, it was projected that, if this disease was not controlled, by the year 2000 the cost of treatment of these children would consume the entire health care budget of Cyprus and require all of the blood that the island could supply, even supposing that 40 percent of the adults would enlist as regular blood donors.

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Literature review current through: Nov 2017. | This topic last updated: Jul 21, 2017.
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