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Title

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

Authors
Darbellay, R
Heller, Y
Published in The 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
Identifiers
PMID: 11920235
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Article (Published version) (1.4 MB) - document accessible for UNIGE members only Limited access to UNIGE
Structures
Research groups Maladies pulmonaires aigues et pathologies cardiaques congénitales (697)
Groupe Roosnek Eddy (hémato-oncologie) (19)
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VON PLANTA, Maya et al. Hypothesis for generation of the unstable Hb Bucuresti (beta 42 Phe-->Leu) mutation. In: The Hematology Journal, 2001, vol. 2, n° 1, p. 61-6. https://archive-ouverte.unige.ch/unige:56147

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Deposited on : 2015-05-13

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