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

Darbellay, R
Heller, Y
Published in Hematology journal. 2001, vol. 2, no. 1, p. 61-6
Abstract 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.
Keywords Amino Acid SubstitutionAnemia, Hemolytic/etiology/geneticsChildDNA Mutational AnalysisHemoglobins, Abnormal/analysis/geneticsHot TemperatureHumansMalePoint MutationProtein Denaturation
PMID: 11920235
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Research groups Groupe Roosnek Eddy (hémato-oncologie) (19)
Maladies pulmonaires aigues et pathologies cardiaques congénitales (697)
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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. 61-6. doi: 10.1038/sj/thj/6200085 https://archive-ouverte.unige.ch/unige:56147

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Deposited on : 2015-05-13

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