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

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 of beta-thalassemia and HPFH type 2, using a PCR str...

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Bibliographic Details
Published in:Annals of hematology 1995-03, Vol.70 (3), p.159-161
Main Authors: GONCALVES, M. S, FAHEL, S, FIGUEIREDO, M. S, KIMURA, E. J, NECHTMAN, F, STOMING, T. A, ARRUDA, V. R, SAAD, S. T. O, COSTA, F. F
Format: Article
Language:English
Subjects:
Adult
beta-Thalassemia - epidemiology
beta-Thalassemia - genetics
Biological and medical sciences
Brazil - epidemiology
Child
Fetal Hemoglobin - analysis
Fetal Hemoglobin - genetics
Gene Deletion
Globins - genetics
Hematology
Hemoglobinopathies - epidemiology
Hemoglobinopathies - genetics
Humans
Investigative techniques, diagnostic techniques (general aspects)
Male
Medical sciences
Pathology. Cytology. Biochemistry. Spectrometry. Miscellaneous investigative techniques
Point Mutation
Promoter Regions, Genetic
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Summary: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 of beta-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.
ISSN:0939-5555
1432-0584
DOI:10.1007/BF01682037