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

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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..degree.-thalassaemia. The substitution involved a T.fwdarw.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..degree.-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.