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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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| Published in: | Annals of hematology 1995-03, Vol.70 (3), p.159-161 |
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| Main Authors: | , , , , , , , , |
| Format: | Article |
| Language: | English |
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| cited_by | cdi_FETCH-LOGICAL-c311t-e4932cfb4be59d81ab9eb9696323f251074b69a567c9cbad414294353429a3d73 |
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| cites | cdi_FETCH-LOGICAL-c311t-e4932cfb4be59d81ab9eb9696323f251074b69a567c9cbad414294353429a3d73 |
| container_end_page | 161 |
| container_issue | 3 |
| container_start_page | 159 |
| container_title | Annals of hematology |
| container_volume | 70 |
| creator | 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 |
| description | 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. |
| doi_str_mv | 10.1007/BF01682037 |
| format | article |
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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.</description><identifier>ISSN: 0939-5555</identifier><identifier>EISSN: 1432-0584</identifier><identifier>DOI: 10.1007/BF01682037</identifier><identifier>PMID: 7536477</identifier><language>eng</language><publisher>Berlin: Springer</publisher><subject>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. 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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.</description><subject>Adult</subject><subject>beta-Thalassemia - epidemiology</subject><subject>beta-Thalassemia - genetics</subject><subject>Biological and medical sciences</subject><subject>Brazil - epidemiology</subject><subject>Child</subject><subject>Fetal Hemoglobin - analysis</subject><subject>Fetal Hemoglobin - genetics</subject><subject>Gene Deletion</subject><subject>Globins - genetics</subject><subject>Hematology</subject><subject>Hemoglobinopathies - epidemiology</subject><subject>Hemoglobinopathies - genetics</subject><subject>Humans</subject><subject>Investigative techniques, diagnostic techniques (general aspects)</subject><subject>Male</subject><subject>Medical sciences</subject><subject>Pathology. Cytology. Biochemistry. Spectrometry. 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| fulltext | fulltext |
| identifier | ISSN: 0939-5555 |
| ispartof | Annals of hematology, 1995-03, Vol.70 (3), p.159-161 |
| issn | 0939-5555 1432-0584 |
| language | eng |
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| source | Springer LINK Archives |
| 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 |
| title | Molecular identification of hereditary persistence of fetal hemoglobin type 2 (HPFH type 2) in patients from Brazil |
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