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Am J Dis Child. 1948;75(4):505-527. doi:10.1001/archpedi.1948.02030020520002.
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IN 1925 and in 1927, Cooley and his associates1 drew attention to an anemia which had heretofore been regarded as belonging to the heterogeneous group of von Jaksch's anemia, but which possessed such well defined features as to constitute a clinical entity. The outstanding characteristics of this condition are the familial and racial tendencies, the progressive anemia, marked distortion of the red cells, large numbers of normoblasts, the occurrence of jaundice, splenomegaly and, frequently, hepatomegaly, the mongoloid facies and definite roentgenographic changes. The patients are mainly of Greek, Italian (principally Sicilian) or Syrian ancestry. Since Cooley's original description, an increasing number of cases of the severe form of the disease has been frequently reported. The prognosis for the severe form of the disease with symptoms dating from the first two years of life is unfavorable, although with frequent transfusions children have been carried beyond adolescence.

In familial studies of


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