Molecular diagnosis of a case of Hb Phnom Penh [alpha117(GH5)Phe-I1e-alpha118(H1)Thr (alpha1)]

Hemoglobin. 2006;30(3):397-9. doi: 10.1080/03630260600755906.

Abstract

We report the first case of Hb Phnom Penh where a molecular study was done on the patient's sample. The result confirmed the predicted DNA sequence change involved in the mutation, which was delineated by another group in 1998 using amino acid analysis.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Anemia, Hypochromic / genetics*
  • Blood Protein Electrophoresis / methods
  • Chromatography, High Pressure Liquid
  • Female
  • Genetic Carrier Screening / methods*
  • Globins / chemistry
  • Globins / genetics*
  • Hemoglobins, Abnormal / chemistry
  • Hemoglobins, Abnormal / genetics*
  • Humans
  • Pregnancy
  • Sequence Analysis, DNA

Substances

  • Hemoglobins, Abnormal
  • hemoglobin Phnom Penh
  • Globins