RT Journal Article
SR Electronic
T1 A genetic combination of silent beta-thalassaemia, high Hb A2 beta-thalassaemia, and single alpha globin gene deletion causing mild thalassaemia intermedia.
JF Journal of Medical Genetics
JO J Med Genet
FD BMJ Publishing Group Ltd
SP 153
OP 156
DO 10.1136/jmg.21.2.153
VO 21
IS 2
A1 Galanello, R
A1 Maccioni, L
A1 Rosatelli, M C
A1 Ibba, P
A1 Nurchi, A M
A1 Cao, A
YR 1984
UL http://jmg.bmj.com/content/21/2/153.abstract
AB This paper reports a Sardinian patient, who was a compound heterozygote for silent beta-thalassaemia and high Hb A2 beta o-thalassaemia with the clinical phenotype of mild thalassaemia intermedia; alpha globin gene mapping showed a single alpha globin gene deletion. The reduced alpha globin chain output resulted in more balanced globin chain synthesis, which in turn accounted for the mild clinical phenotype.