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) |
|---|---|
| Pages (from-to) | 113-117 |
| Number of pages | 5 |
| Journal | British Journal of Haematology |
| Volume | 71 |
| Issue number | 1 |
| DOIs | |
| State | Published - Jan 1 1989 |
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ASJC Scopus subject areas
- Hematology
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Severe Hb S-β°-thalassaemia with a T→C substitution in the donor splice site of the first intron of the β-globin gene. / Gonzalez-Redondo, J. M.; Stoming, T. A.; Kutlar, Ferdane; Kutlar, Abdullah; McKie, V. C.; McKie, K. M.; Huisman, T. H.J.
In: British Journal of Haematology, Vol. 71, No. 1, 01.01.1989, p. 113-117.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Severe Hb S-β°-thalassaemia with a T→C substitution in the donor splice site of the first intron of the β-globin gene
AU - Gonzalez-Redondo, J. M.
AU - Stoming, T. A.
AU - Kutlar, Ferdane
AU - Kutlar, Abdullah
AU - McKie, V. C.
AU - McKie, K. M.
AU - Huisman, T. H.J.
PY - 1989/1/1
Y1 - 1989/1/1
N2 - 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.
AB - 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.
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UR - http://www.scopus.com/inward/citedby.url?scp=0024570091&partnerID=8YFLogxK
U2 - 10.1111/j.1365-2141.1989.tb06283.x
DO - 10.1111/j.1365-2141.1989.tb06283.x
M3 - Article
VL - 71
SP - 113
EP - 117
JO - British Journal of Haematology
JF - British Journal of Haematology
SN - 0007-1048
IS - 1
ER -