Severe Hb S-β°-thalassaemia with a T→C substitution in the donor splice site of the first intron of the β-globin gene

J. M. Gonzalez-Redondo, T. A. Stoming, Ferdane Kutlar, Abdullah Kutlar, V. C. McKie, K. M. McKie, T. H.J. Huisman

Research output: Contribution to journalArticle

41 Citations (Scopus)

Abstract

Through direct sequencing and dot-blot analyses with synthetic oligonucleotide probes of amplified DNA, a new nucleotide substitution was discovered in a Black teenager with severe Hb S-β°-thalassaemia. The substitution involved a T→C replacement at the second position of the donor splice site of the first intervening sequence of the β-globin gene. The clinical and haematological observations made in Black subjects with Hb S-β°-thalassaemia, with different types of thalassaemia, suggest severe disease resembling sickle cell anaemia. Only an occasional patient had a milder clinical course, perhaps because of a greatly increased production of fetal haemoglobin.

Original languageEnglish (US)
Pages (from-to)113-117
Number of pages5
JournalBritish Journal of Haematology
Volume71
Issue number1
DOIs
StatePublished - Jan 1 1989

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RNA Splice Sites
Thalassemia
Globins
Introns
Genes
Fetal Hemoglobin
Oligonucleotide Probes
Sickle Cell Anemia
Nucleotides
DNA

ASJC Scopus subject areas

  • Hematology

Cite this

Severe Hb S-β°-thalassaemia with a T→C substitution in the donor splice site of the first intron of the β-globin gene. / Gonzalez-Redondo, J. M.; Stoming, T. A.; Kutlar, Ferdane; Kutlar, Abdullah; McKie, V. C.; McKie, K. M.; Huisman, T. H.J.

In: British Journal of Haematology, Vol. 71, No. 1, 01.01.1989, p. 113-117.

Research output: Contribution to journalArticle

Gonzalez-Redondo, J. M. ; Stoming, T. A. ; Kutlar, Ferdane ; Kutlar, Abdullah ; McKie, V. C. ; McKie, K. M. ; Huisman, T. H.J. / Severe Hb S-β°-thalassaemia with a T→C substitution in the donor splice site of the first intron of the β-globin gene. In: British Journal of Haematology. 1989 ; Vol. 71, No. 1. pp. 113-117.
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