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Inclusion Body Anemia With Pigmenturia

Arch Intern Med. 1964;114(1):83-88. doi:10.1001/archinte.1964.03860070129016.
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Introduction  Congenital inclusion body anemia with abnormal pigment metabolism is a rare form of hemolytic anemia. It was recognized as a new clinical entity independently by Lange and Akeroyd1 (1958) and Schmid et al2 (1959), although the first case report has been attributed erroneously to Cathie3 (1952). Criteria for diagnosis of this anemia consist of (1) the presence of a hemolytic anemia since birth or early childhood, (2) the presence of numerous large inclusion bodies within the red blood cells, and (3) the finding of an abnormal pigment metabolism manifested by pigmenturia.1-6The pathogenesis of this syndrome is not understood, and, because of its rarity, the following case is reported and the literature reviewed.

Methods  Routine hematologic studies and differential stains of the bone marrow were done by standard techniques.7,8 Erythrokinetic studies were performed by methods described previously.9 Red cell hemolysates for electrophoresis were


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