Literature DB >> 23100882

Detection of non-deletional type of hereditary persistence of fetal hemoglobin (HPFH) condition associated with 619 bp β(°)-thalassemia deletion.

S M Husain1, M P Anandaraj.   

Abstract

DNA samples from a family (parents and a son) with hereditary persistence of fetal hemoglobin (HPFH) condition were subjected to amplification of a 1.214 kbp DNA fragment from β-globin gene using polymerase chain reaction (PCR). The aim of this study was to identify the type of HPFH i.e. deletional or non deletional. Non deletional type of HPFH was identified in two samples and moreover, these samples were found to be associated with 619bp β(°)-thalassemia deletion. This is the first report on the association of non deletional HPFH with 619bp β(°)-thalassemia deletion.

Entities:  

Keywords:  619 bp deletion; Deletional and Non deletional HPFH; Thalassemia; fetal hemoglobin

Year:  1997        PMID: 23100882      PMCID: PMC3453670          DOI: 10.1007/BF02873679

Source DB:  PubMed          Journal:  Indian J Clin Biochem        ISSN: 0970-1915


  18 in total

1.  Nucleotide sequence of the Belgian G gamma+(A gamma delta beta)0-thalassemia deletion breakpoint suggests a common mechanism for a number of such recombination events.

Authors:  R Fodde; M Losekoot; L Casula; L F Bernini
Journal:  Genomics       Date:  1990-12       Impact factor: 5.736

2.  Studies on abnormal hemoglobins. I. Their demonstration in sickle cell anemia and other hematologic disorders by means of alkali denaturation.

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Journal:  Blood       Date:  1951-05       Impact factor: 22.113

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Journal:  Annu Rev Biochem       Date:  1985       Impact factor: 23.643

4.  Fetal hemoglobin expression in compound heterozygotes for -117 (G-->A)A gamma HPFH and beta zero 39 nonsense thalassemia.

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Journal:  Am J Hematol       Date:  1995-08       Impact factor: 10.047

5.  Detection of a major gene for heterocellular hereditary persistence of fetal hemoglobin after accounting for genetic modifiers.

Authors:  S L Thein; M Sampietro; K Rohde; J Rochette; D J Weatherall; G M Lathrop; F Demenais
Journal:  Am J Hum Genet       Date:  1994-02       Impact factor: 11.025

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Authors:  D Tuan; M J Murnane; J L deRiel; B G Forget
Journal:  Nature       Date:  1980-05-29       Impact factor: 49.962

7.  Unexpected relationships between four large deletions in the human beta-globin gene cluster.

Authors:  E F Vanin; P S Henthorn; D Kioussis; F Grosveld; O Smithies
Journal:  Cell       Date:  1983-12       Impact factor: 41.582

8.  Interaction between homozygous beta (0) thalassaemia and the Swiss type of hereditary persistence of fetal haemoglobin.

Authors:  M D Cappellini; G Fiorelli; L F Bernini
Journal:  Br J Haematol       Date:  1981-08       Impact factor: 6.998

9.  A non-deletion hereditary persistence of fetal hemoglobin (HPFH) determinant not linked to the beta-globin gene complex.

Authors:  S L Thein; D J Weatherall
Journal:  Prog Clin Biol Res       Date:  1989

Review 10.  DNA sequences regulating human globin gene transcription in nondeletional hereditary persistence of fetal hemoglobin.

Authors:  S Ottolenghi; R Mantovani; S Nicolis; A Ronchi; B Giglioni
Journal:  Hemoglobin       Date:  1989       Impact factor: 0.849

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