DOI: 10.1111/j.1365-2141.1989.tb07655.x. Molecular characterization of β‐globin gene mutations in Malay patients with Hb E‐β‐thalassaemia and thalassaemia major

Molecular characterization of β‐globin gene mutations in Malay patients with Hb E‐β‐thalassaemia and thalassaemia major

10.1111/j.1365-2141.1989.tb07655.x

Crossref journal-article

Wiley

British Journal of Haematology (311)

Abstract

Summary. This study concerned the identification of the β‐thalassaemia mutations that were present in 27 Malay patients with Hb E‐β‐thalassaemia and seven Malay patients with thalassaemia major who were from West Malaysia. Nearly 50% of all β‐thalassaemia chromosomes carried the G → C substitution at nucleotide 5 of IVS‐I; the commonly occurring Chinese anomalies such as the frameshift at codons 41 and 42, the nonsense mutation A → T at codon 17, the A → G substitution at position −28 of the promoter region, and the C → T substitution at position 654 of the second intron, were rare or absent. Two new thalassaemia mutations were discovered. The first involves a frameshift at codon 35 (‐C) that was found in two patients with Hb E‐β°‐thalassaemia and causes a β°‐thalassaemia because a stop codon is present at codon 60. The second is an AAC → AGC mutation in codon 19 that was present on six chromosomes. This substitution results in the production of an abnormal β chain (β‐Malay) that has an Asn → Ser substitution at position β19. Hb Malay is a‘Hb Knossos‐like’β+‐thalassaemia abnormality; the A → G mutation at codon 19 likely creates an alternate splicing site between codons 17 and 18, reducing the efficiency of the normal donor splice site at IVS‐I to about 60%.

Bibliography

Yang, K. G., Kutlar, F., George, E., Wilson, J. B., Kutlar, A., Stoming, T. A., Redondo, J. M. G., & Huisman, T. H. J. (1989). Molecular characterization of Î²âglobin gene mutations in Malay patients with Hb EâÎ²âthalassaemia and thalassaemia major. British Journal of Haematology, 72(1), 73â80. Portico.

Authors 8

K. G. Yang (first)
F. Kutlar (additional)
E. George (additional)
J. B. Wilson (additional)
A. Kutlar (additional)
T. A. Stoming (additional)
J. M. Gonzalez Redondo (additional)
T. H. J. Huisman (additional)

References 45 Referenced 80

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Dates

Type	When
Created	17 years, 5 months ago (March 12, 2008, 10:02 a.m.)
Deposited	1 year, 10 months ago (Oct. 22, 2023, 9:14 a.m.)
Indexed	3 months, 3 weeks ago (May 10, 2025, 11:05 a.m.)
Issued	36 years, 4 months ago (May 1, 1989)
Published	36 years, 4 months ago (May 1, 1989)
Published Online	17 years, 5 months ago (March 12, 2008)
Published Print	36 years, 4 months ago (May 1, 1989)

Funders 0

None

BibTeX

@article{Yang_1989, title={Molecular characterization of β‐globin gene mutations in Malay patients with Hb E‐β‐thalassaemia and thalassaemia major}, volume={72}, ISSN={1365-2141}, url={http://dx.doi.org/10.1111/j.1365-2141.1989.tb07655.x}, DOI={10.1111/j.1365-2141.1989.tb07655.x}, number={1}, journal={British Journal of Haematology}, publisher={Wiley}, author={Yang, K. G. and Kutlar, F. and George, E. and Wilson, J. B. and Kutlar, A. and Stoming, T. A. and Redondo, J. M. Gonzalez and Huisman, T. H. J.}, year={1989}, month=may, pages={73–80} }

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  "container-title-short": "Br J Haematol",
  "published": {
    "date-parts": [
      [
        1989,
        5
      ]
    ]
  },
  "assertion": [
    {
      "value": "2008-03-12",
      "order": 2,
      "name": "published",
      "label": "Published",
      "group": {
        "name": "publication_history",
        "label": "Publication History"
      }
    }
  ]
}