Literature DB >> 6297220

Coexistence of alpha-thalassemia and a new pyruvate kinase variant: PK Fukien.

E Beutler, L Forman.   

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.

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Year:  1983        PMID： 6297220     DOI： 10.1159/000206830

Source DB:  PubMed          Journal:  Acta Haematol        ISSN： 0001-5792            Impact factor:   2.195


  1 in total

1.  Heterozygous pyruvate kinase deficiency and severe hemolytic anemia in a pregnant woman with concomitant, glucose-6-phosphate dehydrogenase deficiency.

Authors:  J L Vives Corrons; A M García; A M Sosa; A Pujades; D Colomer; M Linares
Journal:  Ann Hematol       Date:  1991-05       Impact factor: 3.673
  1 in total

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