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Severe Hb S-beta zero-thalassaemia with a T----C substitution in the donor splice site of the first intron of the beta-globin gene.
- Source :
-
British journal of haematology [Br J Haematol] 1989 Jan; Vol. 71 (1), pp. 113-7. - Publication Year :
- 1989
-
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-beta zero-thalassaemia. The substitution involved a T----C replacement at the second position of the donor splice site of the first intervening sequence of the beta-globin gene. The clinical and haematological observations made in Black subjects with Hb S-beta zero-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.
Details
- Language :
- English
- ISSN :
- 0007-1048
- Volume :
- 71
- Issue :
- 1
- Database :
- MEDLINE
- Journal :
- British journal of haematology
- Publication Type :
- Academic Journal
- Accession number :
- 2917118
- Full Text :
- https://doi.org/10.1111/j.1365-2141.1989.tb06283.x