title: Coexistence of alpha-thalassemia and a new pyruvate kinase variant: PK Fukien.
abstract: A 12-year-old male of Chinese ancestry had life-long hemolytic anemia attributed to alpha-thalassemia. Restriction endonuclease mapping of his DNA revealed that in reality, he had three alpha-globin loci, but he was homozygous for pyruvate kinase deficiency. The new pyruvate kinase variant carried by this patient was characterized and designated PK Fukien.
mesh_terms: D001797:Blood Protein Electrophoresis; D002648:Child; D002681:China / Q000208:ethnology; D004262:DNA Restriction Enzymes / Q000378:metabolism; D004912:Erythrocytes / Q000201:enzymology; D014644:Genetic Variation; D005914:Globins / Q000096:biosynthesis / Q000235:genetics; D006454:Hemoglobins / Q000032:analysis; D006801:Humans; D008297:Male; D011770:Pyruvate Kinase / Q000172:deficiency* / Q000235:genetics; D013789:Thalassemia / Q000150:complications* / Q000201:enzymology / Q000235:genetics
chemical_list: D006454:Hemoglobins; D005914:Globins; D011770:Pyruvate Kinase; D004262:DNA Restriction Enzymes