Hereditary haemolytic anaemia due to red cell pyrimidine 5'-nucleotidase deficiency in two Irish families with a note on the benefit of splenectomy. 1981

J N McMahon, and J E Lieberman, and E C Gordon-Smith, and E L Egan

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.

UI MeSH Term Description Entries
D008875 Middle Aged An adult aged 45 - 64 years. Middle Age
D009708 Nucleotidases A class of enzymes that catalyze the conversion of a nucleotide and water to a nucleoside and orthophosphate. EC 3.1.3.-.
D004912 Erythrocytes Red blood cells. Mature erythrocytes are non-nucleated, biconcave disks containing HEMOGLOBIN whose function is to transport OXYGEN. Blood Cells, Red,Blood Corpuscles, Red,Red Blood Cells,Red Blood Corpuscles,Blood Cell, Red,Blood Corpuscle, Red,Erythrocyte,Red Blood Cell,Red Blood Corpuscle
D005260 Female Females
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000293 Adolescent A person 13 to 18 years of age. Adolescence,Youth,Adolescents,Adolescents, Female,Adolescents, Male,Teenagers,Teens,Adolescent, Female,Adolescent, Male,Female Adolescent,Female Adolescents,Male Adolescent,Male Adolescents,Teen,Teenager,Youths
D000745 Anemia, Hemolytic, Congenital Hemolytic anemia due to various intrinsic defects of the erythrocyte. Anemia, Hemolytic, Hereditary,Congenital Hemolytic Anemia,Hemolytic Anemia, Congenital,Hemolytic Anemia, Hereditary,Hereditary Hemolytic Anemia,Anemia, Congenital Hemolytic,Anemia, Hereditary Hemolytic,Anemias, Congenital Hemolytic,Anemias, Hereditary Hemolytic,Congenital Hemolytic Anemias,Hemolytic Anemias, Congenital,Hemolytic Anemias, Hereditary,Hereditary Hemolytic Anemias
D013156 Splenectomy Surgical procedure involving either partial or entire removal of the spleen. Splenectomies
D015720 5'-Nucleotidase A glycoprotein enzyme present in various organs and in many cells. The enzyme catalyzes the hydrolysis of a 5'-ribonucleotide to a ribonucleoside and orthophosphate in the presence of water. It is cation-dependent and exists in a membrane-bound and soluble form. EC 3.1.3.5. 5'-AMP Nucleotidase,AMP Phosphatase,Adenylate Phosphatase,Antigens, CD73,CD73 Antigens,Cytidylate Phosphatase,Ecto-5'-Nucleotidase,IMP Nucleotidase,IMP Phosphatase,Inosinate Phosphatase,Pyrimidine 5'-Nucleotidase,Thymidine Phosphatase,Uridylate 5'-Nucleotidase,5'-Nucleotidase Phosphoribolase,Antigen, CD73,IMPase,5' AMP Nucleotidase,5' Nucleotidase,5' Nucleotidase Phosphoribolase,CD73 Antigen,Ecto 5' Nucleotidase,Pyrimidine 5' Nucleotidase,Uridylate 5' Nucleotidase

Related Publications

J N McMahon, and J E Lieberman, and E C Gordon-Smith, and E L Egan
January 1984, International journal of tissue reactions,
J N McMahon, and J E Lieberman, and E C Gordon-Smith, and E L Egan
March 2000, Bailliere's best practice & research. Clinical haematology,
J N McMahon, and J E Lieberman, and E C Gordon-Smith, and E L Egan
October 1977, South African medical journal = Suid-Afrikaanse tydskrif vir geneeskunde,
J N McMahon, and J E Lieberman, and E C Gordon-Smith, and E L Egan
August 1986, British journal of haematology,
J N McMahon, and J E Lieberman, and E C Gordon-Smith, and E L Egan
June 1976, Blood,
J N McMahon, and J E Lieberman, and E C Gordon-Smith, and E L Egan
February 1981, Nihon Ketsueki Gakkai zasshi : journal of Japan Haematological Society,
J N McMahon, and J E Lieberman, and E C Gordon-Smith, and E L Egan
December 1978, Metabolism: clinical and experimental,
J N McMahon, and J E Lieberman, and E C Gordon-Smith, and E L Egan
January 1989, Acta haematologica,
J N McMahon, and J E Lieberman, and E C Gordon-Smith, and E L Egan
July 1979, Clinica chimica acta; international journal of clinical chemistry,
J N McMahon, and J E Lieberman, and E C Gordon-Smith, and E L Egan
January 1980, Hemoglobin,
Copied contents to your clipboard!