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

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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
Issue number1
StatePublished - Jan 1 1989


ASJC Scopus subject areas

  • Hematology

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