Compound heterozygosity for beta(+)-thalassemia [-31 (A-->G)] and a new variant with low oxygen affinity, Hb Sagami [beta139(H17)Asn-->Thr]

Hemoglobin. 1999 Aug;23(3):267-71. doi: 10.3109/03630269909005708.
No abstract available

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Asparagine
  • Base Sequence
  • Hemoglobins, Abnormal / genetics*
  • Heterozygote
  • Humans
  • Japan / epidemiology
  • Male
  • Mass Spectrometry
  • Middle Aged
  • Oxygen / metabolism*
  • Point Mutation
  • Polymerase Chain Reaction
  • Threonine
  • beta-Thalassemia / genetics*

Substances

  • Hemoglobins, Abnormal
  • hemoglobin Sagami
  • Threonine
  • Asparagine
  • Oxygen