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Haemoglobin M Hyde Park occurring as a fresh mutation: diagnostic, structural, and genetic considerations.

Authors
Journal
Journal of Medical Genetics
0022-2593
Publisher
BMJ
Publication Date
Keywords
  • Research Article
Disciplines
  • Medicine

Abstract

Hb M Hyde Park disease was detected in a girl who for several years was thought to have cyanotic heart disease. The problems of recognizing the condition are outlined and clues to diagnosis are discussed. Evidence for heme loss from the aberrant beta chains of Hb M Hyde Park and production of an unstable molecule is presented. The normal haematological findings in the patient's parents, as well as their blood groups and isozymes, suggest that the occurrence of her Hb M Hyde Park was the result of a fresh mutation. Images

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