Literature DB >> 16189162

Dominantly inherited beta thalassaemia intermedia caused by a new single nucleotide deletion in exon 2 of the beta globin gene: Hb morgantown (beta91 CTG>CG).

H-Y Luo1, W Tang, S H Eung, J E Coad, P Canfield, F Keller, E H Crowell, M H Steinberg, D H K Chui.   

Abstract

Family members in multiple generations of an Irish-American family were investigated for moderate to severe microcytic anaemia, inherited in an autosomal dominant fashion. A novel frameshift mutation of the beta globin gene was discovered. This study highlights the importance of considering dominantly inherited beta thalassemia in the investigation of anaemia, even in patients with ethnic backgrounds not usually associated with beta thalassaemia.

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Year:  2005        PMID： 16189162      PMCID： PMC1770750          DOI： 10.1136/jcp.2004.023010

Source DB:  PubMed          Journal:  J Clin Pathol        ISSN： 0021-9746            Impact factor:   3.411


  12 in total

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Authors:  N F Olivieri
Journal:  N Engl J Med       Date:  1999-07-08       Impact factor: 91.245

Review 2.  Hemoglobin and the paracrine and endocrine functions of nitric oxide.

Authors:  Alan N Schechter; Mark T Gladwin
Journal:  N Engl J Med       Date:  2003-04-10       Impact factor: 91.245

3.  Dominant beta-thalassaemia: a highly unstable haemoglobin is caused by a novel 6 bp deletion of the beta-globin gene.

Authors:  B Vetter; G Neu-Yilik; E Kohne; R Arnold; P Sinha; G Gaedicke; V Ivancevic; A E Kulozik
Journal:  Br J Haematol       Date:  2000-01       Impact factor: 6.998

4.  Single-tube multiplex-PCR screen for anti-3.7 and anti-4.2 alpha-globin gene triplications.

Authors:  Wen Wang; Edmond S K Ma; Amy Y Y Chan; John Prior; Wendy N Erber; Li C Chan; David H K Chui; Samuel S Chong
Journal:  Clin Chem       Date:  2003-10       Impact factor: 8.327

5.  A novel sickle hemoglobin: hemoglobin S-south end.

Authors:  Hong-Yuan Luo; Adeboye H Adewoye; Shawn H Eung; Timothy P Skelton; Karen Quillen; Lillian McMahon; Martin H Steinberg; David H K Chui
Journal:  J Pediatr Hematol Oncol       Date:  2004-11       Impact factor: 1.289

Review 6.  Dominant beta thalassaemia: molecular basis and pathophysiology.

Authors:  S L Thein
Journal:  Br J Haematol       Date:  1992-03       Impact factor: 6.998

7.  Molecular basis for dominantly inherited inclusion body beta-thalassemia.

Authors:  S L Thein; C Hesketh; P Taylor; I J Temperley; R M Hutchinson; J M Old; W G Wood; J B Clegg; D J Weatherall
Journal:  Proc Natl Acad Sci U S A       Date:  1990-05       Impact factor: 11.205

8.  Erythroblastic inclusions in dominantly inherited beta thalassemias.

Authors:  P J Ho; S N Wickramasinghe; D C Rees; M J Lee; A Eden; S L Thein
Journal:  Blood       Date:  1997-01-01       Impact factor: 22.113

9.  Genetic influences on F cells and other hematologic variables: a twin heritability study.

Authors:  C Garner; T Tatu; J E Reittie; T Littlewood; J Darley; S Cervino; M Farrall; P Kelly; T D Spector; S L Thein
Journal:  Blood       Date:  2000-01-01       Impact factor: 22.113

10.  Inclusion-body beta-thalassemia trait. A form of beta thalassemia producing clinical manifestations in simple heterozygotes.

Authors:  G Stamatoyannopoulos; R Woodson; T Papayannopoulou; D Heywood; S Kurachi
Journal:  N Engl J Med       Date:  1974-04-25       Impact factor: 91.245
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  2 in total

1.  Patients with thalassemia in the United States.

Authors:  Hong-yuan Luo; Jeanne Boudreaux; Martin H Steinberg; David H K Chui
Journal:  Blood       Date:  2005-06-15       Impact factor: 22.113

2.  Double heterozygocity for hemoglobin C and beta thalassemia dominant: A rare case of thalassemia intermedia.

Authors:  Alexandra Agapidou; Paul King; Cecilia Ng; Dimitris A Tsitsikas
Journal:  Hematol Rep       Date:  2018-01-03
  2 in total

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