Scientific article
Case report

Hypothesis for generation of the unstable Hb Bucuresti (beta 42 Phe-->Leu) mutation

Published inHematology journal, vol. 2, no. 1, p. 61-66
Publication date2001

Unstable hemoglobin disorders are characterized by a congenital, mostly familial chronic hemolytic anemia with episodes of severe hemolysis during febrile illnesses. Usually, isopropanol and heat stability tests lead to the diagnosis which is confirmed by protein and gene sequencing. Generation of the mutations is still a subject of controversy. PATIENT, MATERIALS AND METHODS: We describe a 6-year-old Swiss child with congenital hemolytic anemia and a negative family history. Hemoglobin was studied by IEF, HPLC reverse phase chromatography, heat stability and isopropranol tests. DNA was sequenced in both coding and non-coding strands.

  • Amino Acid Substitution
  • Anemia, Hemolytic/etiology/genetics
  • Child
  • DNA Mutational Analysis
  • Hemoglobins, Abnormal/analysis/genetics
  • Hot Temperature
  • Humans
  • Male
  • Point Mutation
  • Protein Denaturation
Citation (ISO format)
VON PLANTA, Maya et al. Hypothesis for generation of the unstable Hb Bucuresti (beta 42 Phe-->Leu) mutation. In: Hematology journal, 2001, vol. 2, n° 1, p. 61–66. doi: 10.1038/sj/thj/6200085
Main files (1)
Article (Published version)
ISSN of the journal1466-4860

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