Study of thalassemia minor in three generations of an Italian family.


By ROBERT W. HEINLE, M.D., AND MARGARET RUTH READ, M.D. A CONSIDERABLE knowledge concerning the heredity and transmission of Cooley’s erythroblastic anemia, or thalassemia, has accumulated during the past twenty years but there is still need for more complete data and further genetic studies of families showing the trait. In 192.7, Cooley’ reported his observations on erythroblastic anemia occurring in Mediterranean peoples. He concluded that the anemia was congenital, but in spite of frequent familial occurrence, he doubted that heredity was a factor since the patients died before puberty and so could not transmit the disease. It was recognized for the first time in 1937 that a mild, but similar, type of anemia occurred in parents and siblings of individuals with Cooley’s anemia. Angelini (quoted by Wintrobe and his associates’) observed that in some instances, the erythrocytes of apparently healthy parents and siblings of patients with Cooley’s anemia showed decreased fragility when tested in hypotonic saline. Caminopetros3 independently confirmed this observation in 1938. Two years later, Wintrobe and co-workers,’ Dameshek4 and Strauss and coworkers5 described a mild form of microcytic hypochromic anemia, resistant to iron therapy, and occurring in Italian families. The anemia was characterized by the frequent occurrence of increased numbers of erythrocytes, with absolute and relative reduction of hemoglobin, bizarre forms of erythrocytes and decreased fragility in hypotonic saline. These authors variously termed the dyscrasia as ‘ ‘target cell anemia,’ ‘ ‘ ‘familial microcytic anemia’ ‘ and ‘ ‘anemia of adults resembling thalassemia. ‘ ‘ It was not immediately apparent whether this disease was related genetically to Cooley’s Mediterranean anemia, but such a possibility was suggested. Wintrobe6 later confirmed Angelini’s and Caminopetros’ observation of decreased fragility of erythrocytes in the parents of patients having Cooley’s erythroblastic anemia and further pointed out that the blood picture in the parents was identical with the familial microcytic hypochromic anemia which he had previously described.2 In 1942. and 1943, Dameshek7 described several anemic states of varying degree of severity ranging from Cooley’s erythroblastic anemia to conditions with mild hypochromic anemia, target, oval and stippled cells and increased resistance of the erythrocyte to hypotonic saline. He confirmed the findings of other workers in demonstrating that such blood changes occurred in both siblings and parents of patients with thalassemia. Smith8 also demonstrated similar changes in the blood of siblings of patients with Cooley’s anemia and discussed the diagnosis of the “trait” or mild form of the disease.

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@article{Heinle1948StudyOT, title={Study of thalassemia minor in three generations of an Italian family.}, author={Robert W Heinle and Matthew R Read}, journal={Blood}, year={1948}, volume={3 4}, pages={449-56} }