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 language | English (US) |
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Pages (from-to) | 113-117 |
Number of pages | 5 |
Journal | British Journal of Haematology |
Volume | 71 |
Issue number | 1 |
DOIs | |
State | Published - 1989 |
ASJC Scopus subject areas
- Hematology