Literature DB >> 7536477

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

M S Gonçalves1, S Fahel, M S Figueiredo, E J Kimura, F Nechtman, T A Stoming, V R Arruda, S T Saad, F F Costa.   

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 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.

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Year:  1995        PMID： 7536477     DOI： 10.1007/bf01682037

Source DB:  PubMed          Journal:  Ann Hematol        ISSN： 0939-5555            Impact factor:   3.673


  10 in total

1.  Molecular characterization of hereditary persistence of fetal hemoglobin in a patient from Cuba.

Authors:  G Martinez; A Hernandez; L Corral; A Muniz; C Alaez; A Serra; A Alfarano; G Saglio; C Camaschella
Journal:  Blood       Date:  1990-09-15       Impact factor: 22.113

2.  Reliable routine estimation of small amounts of foetal haemoglobin by alkali denaturation.

Authors:  M E Pembrey; P McWade; D J Weatherall
Journal:  J Clin Pathol       Date:  1972-08       Impact factor: 3.411

3.  Rapid electrophoresis and quantitation of haemoglobins on cellulose acetate.

Authors:  A J Marengo-Rowe
Journal:  J Clin Pathol       Date:  1965-11       Impact factor: 3.411

4.  Heterogeneity in the molecular basis of three types of hereditary persistence of fetal hemoglobin and the relative synthesis of the G gamma and A gamma types of gamma chain.

Authors:  A Kutlar; M B Gardiner; M G Headlee; A L Reese; M P Cleek; S Nagle; P K Sukumaran; T H Huisman
Journal:  Biochem Genet       Date:  1984-02       Impact factor: 1.890

5.  Different 3' end points of deletions causing delta beta-thalassemia and hereditary persistence of fetal hemoglobin: implications for the control of gamma-globin gene expression in man.

Authors:  D Tuan; E Feingold; M Newman; S M Weissman; B G Forget
Journal:  Proc Natl Acad Sci U S A       Date:  1983-11       Impact factor: 11.205

Review 6.  Delta beta thalassemia and hereditary persistence of fetal hemoglobin.

Authors:  J A Bollekens; B G Forget
Journal:  Hematol Oncol Clin North Am       Date:  1991-06       Impact factor: 3.722

7.  Globin chain electrophoresis: a new approach to the determination of the G gamma/A gamma ratio in fetal haemoglobin and to studies of globin synthesis.

Authors:  B P Alter; S C Goff; G D Efremov; M E Gravely; T H Huisman
Journal:  Br J Haematol       Date:  1980-04       Impact factor: 6.998

8.  DNA sequencing with chain-terminating inhibitors.

Authors:  F Sanger; S Nicklen; A R Coulson
Journal:  Proc Natl Acad Sci U S A       Date:  1977-12       Impact factor: 11.205

9.  Molecular analysis of deletions in the human beta-globin gene cluster: deletion junctions and locations of breakpoints.

Authors:  P S Henthorn; O Smithies; D L Mager
Journal:  Genomics       Date:  1990-02       Impact factor: 5.736

10.  Rapid detection of deletions causing delta beta thalassemia and hereditary persistence of fetal hemoglobin by enzymatic amplification.

Authors:  J E Craig; R A Barnetson; J Prior; J L Raven; S L Thein
Journal:  Blood       Date:  1994-03-15       Impact factor: 22.113
  10 in total
  1 in total

1.  Featured Article: Modulation of fetal hemoglobin in hereditary persistence of fetal hemoglobin deletion type-2, compared to Sicilian δβ-thalassemia, by BCL11A and SOX6-targeting microRNAs.

Authors:  Thais A Fornari; Carolina Lanaro; Dulcinéia M Albuquerque; Regiane Ferreira; Fernando F Costa
Journal:  Exp Biol Med (Maywood)       Date:  2016-10-04
  1 in total

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