The Thalassemia Syndromes

Brief History and Demographics

Over 2 million Americans carry the gene for thalassemia,14 yet most have never heard of the word thalassemia, which comes from the Greek word thalassa, meaning "from the sea." Relatively few individuals develop severe forms of thalassemia, but for those who do, there is a lifetime of transfusions and medical management of multiorgan problems. The thalassemic gene is ubiquitous, yet it has a particular penetration in Mediterranean areas and in Middle Eastern, Northern African, Indian, Asian, and Caribbean populations. More cases are being seen and treated in the United States as more diverse populations enter the country Fortunately, laboratory professionals seem to be more aware of the possibility of thalassemic conditions when faced with a patient who presents with microcytic process and normal iron status. Physicians and medical students, interns, and residents often fail to consider the thalassemias as reasons for a microcytic process, most likely due to lack of in-depth training or exposure. A respectful relationship between the laboratory and medical staff can be tremendously beneficial in diagnosing and treating new cases of thalassemia.

Dr. Thomas Cooley and Dr. Pearl Lee described the first cases of thalassemia disease in North America in 1925. Clustering together five cases, these clinicians described four children who had anemia, hepato-splenomegaly, skin discoloration, jaundice, and peculiar facial features and bone changes. Their bone marrows showed erythroid hyperplasia (Fig. 5.10), and their peripheral smear showed many nucleated red cells, target cells, and microcytes (Fig. 5.11). Not much has changed in the initial presentation of an individual with thalassemia disease or thalassemia major. The mode of

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