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Hereditary haemolytic anaemia due to red cell pyrimidine 5'-nucleotidase deficiency in two Irish families with a note on the benefit of splenectomy.
Clin Lab Haematol ; 3(1): 27-34, 1981.
Article en En | MEDLINE | ID: mdl-6262006
Hereditary haemolytic anaemia with basophilic stippling caused by pyrimidine 5'-nucleotidase deficiency is described in three members of two unrelated Irish families. In one family, the disease was moderately severe and the patient's condition was improved by splenectomy. In the other family the haemolytic anaemia was well compensated. In neither family was there a marked elevation of reduced glutathione. The implications are that pyrimidine 5'-nucleotidase deficiency is a heterogeneous disorder, both clinically and biochemically. In more severe forms splenectomy may be beneficial.
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Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Esplenectomía / Eritrocitos / Anemia Hemolítica Congénita / Nucleotidasas Límite: Adolescent / Female / Humans / Middle aged Idioma: En Revista: Clin Lab Haematol Año: 1981 Tipo del documento: Article Pais de publicación: Reino Unido
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Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Esplenectomía / Eritrocitos / Anemia Hemolítica Congénita / Nucleotidasas Límite: Adolescent / Female / Humans / Middle aged Idioma: En Revista: Clin Lab Haematol Año: 1981 Tipo del documento: Article Pais de publicación: Reino Unido