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.
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.
Gonzalez-Redondo
J M
JM
Department of Cell and Molecular Biology, Medical College of Georgia, Augusta 30912-2100.
Stoming
T A
TA
Kutlar
F
F
Kutlar
A
A
McKie
V C
VC
McKie
K M
KM
Huisman
T H
TH
D000293:Adolescent; D005914:Globins / Q000235:genetics*; D006451:Hemoglobin, Sickle / Q000235:genetics*; D006801:Humans; D007438:Introns; D008297:Male; D009154:Mutation; D013789:Thalassemia / Q000235:genetics*
D006451:Hemoglobin, Sickle; D005914:Globins