The Globin Gene Mutations

B. Their Phenotypes and Clinical Expression
  • George R. Honig
  • Junius G. AdamsIII


The structural hemoglobin variants, thalassemias, and syndromes of hereditary persistence of fetal hemoglobin synthesis produce a remarkable diversity of clinical manifestations. The principal hematologic and clinical features of these conditions are considered briefly in the following sections, with emphasis on the mode of expression of their mutant genes. These disorders have been reviewed extensively in several recent texts (Lehmann and Huntsman, 1974; Serjeant, 1974; Schwartz, 1980; Weatherall and Clegg, 1981).


Sickle Cell Disease Sickle Cell Trait Oxygen Affinity Heme Pocket Abnormal Hemoglobin 


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Copyright information

© Springer-Verlag/Wien 1986

Authors and Affiliations

  • George R. Honig
    • 1
  • Junius G. AdamsIII
    • 2
    • 3
  1. 1.Department of Pediatrics, College of MedicineUniversity of IllinoisChicagoUSA
  2. 2.Hemoglobin Research LaboratoryVA Medical CenterJacksonUSA
  3. 3.Department of MedicineUniversity of Mississippi School of MedicineJacksonUSA

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