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A new case of haemoglobin Bucuresti in a Cuban family: further functional studies

B Colombe, M P Benitez, L Bernini

    Journal of Medical Genetics
    |September 1, 1975
    PubMed

    A new case of haemoglobin Bucuresti beta 42 (CD1) Phe yields Leu is described in a Cuban family. The functional studies confirm the results already described--a low oxygen affinity and a decreased haem-haem interaction. In addition to this, the reactivity for 2, 3 diphosphoglycerate (2, 3 DPG) was shown to be normal. The instability is mostly due to a fast rate of haemichromes formation.

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