Literature DB >> 2578804

(A gamma delta beta)0-Thalassaemia in Blacks is due to a deletion of 34 kbp of DNA.

P S Henthorn, O Smithies, T Nakatsuji, A E Felice, M B Gardiner, A L Reese, T H Huisman.   

Abstract

DNA from members of 10 Black families with conditions considered to be G gamma (delta beta)0-thalassaemia or G gamma (delta beta)0-HPFH were studied by using restriction enzyme analysis. One or more affected members from each family were shown to have the same deletion of 34 kbp of DNA in the human beta-globin gene cluster. A clone spanning the deletion was isolated from the DNA of one such person and studied in detail. The deletion removed part of the A gamma and all of the psi beta, delta and beta-globin genes and is different from the four previously identified deletions which caused a condition presently known as (A gamma delta beta)0-thalassaemia.

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Year:  1985        PMID: 2578804     DOI: 10.1111/j.1365-2141.1985.tb02999.x

Source DB:  PubMed          Journal:  Br J Haematol        ISSN: 0007-1048            Impact factor:   6.998


  5 in total

1.  Filipino beta zero thalassaemia: a high Hb A2 beta zero thalassaemia resulting from a large deletion of the 5' beta globin gene region.

Authors:  P I Motum; A Kearney; T J Hamilton; R J Trent
Journal:  J Med Genet       Date:  1993-03       Impact factor: 6.318

2.  A Chinese G gamma + (A gamma delta beta)zero thalassemia deletion: comparison to other deletions in the human beta-globin gene cluster and sequence analysis of the breakpoints.

Authors:  D L Mager; P S Henthorn; O Smithies
Journal:  Nucleic Acids Res       Date:  1985-09-25       Impact factor: 16.971

3.  The in vivo expression of the globin genes of the beta cistron in gamma-, delta-, and delta beta-thalassemia heterozygotes.

Authors:  A J Dimovski; A D Adekile; T H Huisman
Journal:  Experientia       Date:  1994-02-15

4.  Molecular characterization of a novel form of (A gamma delta beta)zero-thalassemia deletion with a 3' breakpoint close to those of HPFH-3 and HPFH-4: insights for a common regulatory mechanism.

Authors:  N P Anagnou; T Papayannopoulou; A W Nienhuis; G Stamatoyannopoulos
Journal:  Nucleic Acids Res       Date:  1988-07-11       Impact factor: 16.971

5.  HbS-Sicilian (δβ)0-Thalassemia: A Rare Variant of Sickle Cell.

Authors:  Grace Onimoe; Genine Smarzo
Journal:  Case Rep Hematol       Date:  2017-09-17
  5 in total

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