Literature DB >> 3191033

Characterization of two deletions that remove the entire human zeta-alpha globin gene complex (- -THAI and - -FIL).

N Fischel-Ghodsian1, M A Vickers, M Seip, P Winichagoon, D R Higgs.   

Abstract

We have fully characterized two alpha thalassaemia mutants that occur in Southeast Asia, - -THAI and - -FIL. Each mutant is due to a deletion that removes the entire zeta-alpha-globin gene complex. Localization of the 5' breakpoints described here, allows the identification of unique fragments that are specific for each of the two mutations. This information can be used to assess the frequency of these mutants in Southeast Asia and will be of value in prenatal testing for alpha thalassaemia in this area.

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Year:  1988        PMID： 3191033     DOI： 10.1111/j.1365-2141.1988.tb02469.x

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


  12 in total

1.  PCR-based analysis of alpha-thalassemia in Southern Taiwan.

Authors:  Tyen-Po Chen; Ta-Chih Liu; Chao-Sung Chang; Jang-Gowth Chang; Hui-Jen Tsai; Sheng-Fung Lin
Journal:  Int J Hematol       Date:  2002-04       Impact factor: 2.490

2.  The prevalence and spectrum of alpha and beta thalassaemia in Guangdong Province: implications for the future health burden and population screening.

Authors:  X M Xu; Y Q Zhou; G X Luo; C Liao; M Zhou; P Y Chen; J P Lu; S Q Jia; G F Xiao; X Shen; J Li; H P Chen; Y Y Xia; Y X Wen; Q H Mo; W D Li; Y Y Li; L W Zhuo; Z Q Wang; Y J Chen; C H Qin; M Zhong
Journal:  J Clin Pathol       Date:  2004-05       Impact factor: 3.411

3.  Rapid diagnosis of alpha-thalassemia by melting curve analysis.

Authors:  Thongperm Munkongdee; Phantip Vattanaviboon; Parichut Thummarati; Paijit Sewamart; Pranee Winichagoon; Suthat Fucharoen; Saovaros Svasti
Journal:  J Mol Diagn       Date:  2010-02-26       Impact factor: 5.568

Review 4.  An international registry of survivors with Hb Bart's hydrops fetalis syndrome.

Authors:  Duantida Songdej; Christian Babbs; Douglas R Higgs
Journal:  Blood       Date:  2017-01-05       Impact factor: 22.113

5.  Alpha-thalassemia in the four major aboriginal groups in Taiwan.

Authors:  T M Ko; T A Chen; M I Hsieh; L H Tseng; F J Hsieh; S M Chuang; T Y Lee
Journal:  Hum Genet       Date:  1993-08       Impact factor: 4.132

Review 6.  Alpha-thalassaemia.

Authors:  Cornelis L Harteveld; Douglas R Higgs
Journal:  Orphanet J Rare Dis       Date:  2010-05-28       Impact factor: 4.123

7.  Clinical features and molecular analysis of the alpha thalassemia/mental retardation syndromes. II. Cases without detectable abnormality of the alpha globin complex.

Authors:  A O Wilkie; H C Zeitlin; R H Lindenbaum; V J Buckle; N Fischel-Ghodsian; D H Chui; D Gardner-Medwin; M H MacGillivray; D J Weatherall; D R Higgs
Journal:  Am J Hum Genet       Date:  1990-06       Impact factor: 11.025

8.  Newborn screening for hemoglobinopathies in California.

Authors:  Jennifer Michlitsch; Mahin Azimi; Carolyn Hoppe; Mark C Walters; Bertram Lubin; Fred Lorey; Elliott Vichinsky
Journal:  Pediatr Blood Cancer       Date:  2009-04       Impact factor: 3.167

9.  Healing of broken human chromosomes by the addition of telomeric repeats.

Authors:  J Flint; C F Craddock; A Villegas; D P Bentley; H J Williams; R Galanello; A Cao; W G Wood; H Ayyub; D R Higgs
Journal:  Am J Hum Genet       Date:  1994-09       Impact factor: 11.025

10.  Detection of α-thalassemia-1 Southeast Asian and Thai type deletions and β-thalassemia 3.5-kb deletion by single-tube multiplex real-time PCR with SYBR Green1 and high-resolution melting analysis.

Authors:  Sakorn Pornprasert; Thanatcha Wiengkum; Sarinee Srithep; Isarapong Chainoi; Panthong Singboottra; Sanchai Wongwiwatthananukit
Journal:  Korean J Lab Med       Date:  2011-06-28
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