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Molecular identification of hereditary persistence of fetal hemoglobin type 2 (HPFH type 2) in patients from Brazil

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Abstract

The HPFH deletion type 2 was first described in a patient from Ghana and is characterized by a large deletion of approximately 105 kb extension. We report here the results obtained in studying a black Brazilian patient who presented an association ofβ -thalassemia and HPFH type 2, using a PCR strategy for detection of the breakpoint region. This procedure allows a rapid molecular identification of this condition and is a reliable procedure for screening patients with a hematological picture of HPFH deletion types.

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Gonçalves, M.S., Fahel, S., Figueiredo, M.S. et al. Molecular identification of hereditary persistence of fetal hemoglobin type 2 (HPFH type 2) in patients from Brazil. Ann Hematol 70, 159–161 (1995). https://doi.org/10.1007/BF01682037

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  • DOI: https://doi.org/10.1007/BF01682037

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