TY - JOUR
T1 - Severe thalassaemia intermedia caused by interaction of homozygosity for α-globin gene triplication with heterozygosity for β° thalassaemia
AU - Oron, V.
AU - Filon, D.
AU - Oppenheim, A.
AU - Rund, D.
PY - 1994
Y1 - 1994
N2 - A 3-year-old child was evaluated for β-thalassaemia intermedia. Molecular characterization including β-globin gene sequence analysis revealed heterozygosity for a single β-thalassaemia mutation, IVSI nt1 (G→A). In addition the patient was found to be homozygous for α-globin gene triplication (ααα(anti 3.7)/ααα(anti 3.7)). The propositus has a significantly more severe phenotype than has been previously reported with this combination of genetic defects. In contrast, four individuals heterozygous for both triplicated α and for β thalassaemia had a phenotype of thalassaemia minor, and a fifth had very mild thalassaemia intermedia.
AB - A 3-year-old child was evaluated for β-thalassaemia intermedia. Molecular characterization including β-globin gene sequence analysis revealed heterozygosity for a single β-thalassaemia mutation, IVSI nt1 (G→A). In addition the patient was found to be homozygous for α-globin gene triplication (ααα(anti 3.7)/ααα(anti 3.7)). The propositus has a significantly more severe phenotype than has been previously reported with this combination of genetic defects. In contrast, four individuals heterozygous for both triplicated α and for β thalassaemia had a phenotype of thalassaemia minor, and a fifth had very mild thalassaemia intermedia.
KW - homozygosity
KW - triplicated α-globin genes
KW - β thalassaemia
UR - http://www.scopus.com/inward/record.url?scp=0028247096&partnerID=8YFLogxK
U2 - 10.1111/j.1365-2141.1994.tb04743.x
DO - 10.1111/j.1365-2141.1994.tb04743.x
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C2 - 8199028
AN - SCOPUS:0028247096
SN - 0007-1048
VL - 86
SP - 377
EP - 379
JO - British Journal of Haematology
JF - British Journal of Haematology
IS - 2
ER -