[Molecular diagnosis in a Korean family with thalassemia intermedia due to co-inheritance of triplicated alpha-globin genes (alphaalpha/alphaalphaalpha(anti 3.7)) and beta-thalassemia trait (IVS-II-1 G-->A)].
OBJECTIVE
To analyze the molecular abnormalities of beta-thalassemia intermedia in a Korean family with thalassemia intermedia.


METHODS
Polymerase chain reaction (PCR), Southern blot hybridization and double strand DNA cycle sequencing were used to analyse alpha, beta and gamma globin gene organization.


RESULTS
In the Korean family the interaction between a triplicated alpha-globin locus and a heterozygous beta-thalassemia gave rise to a clinical phenotype of thalassemia. The molecular defect was a heterozygosity for a single beta-thalassemia mutation (beta IVS-II-1 G-->A) and a triplicated alpha-globin gene (alphaalpha/alphaalphaalpha(anti 3.7)).


CONCLUSIONS
Beta-thalassemia heterozygotes conjuncted with alpha-globin gene triplication was the major cause of the beta-thalassemia intermedia in this Korean family.
Chen
M
M
Shanghai Institute of Medical Genetics, Shanghai Children's Hospital, Shanghai 200040, China.
Han
J Y
JY
Sun
Q
Q
Kim
I H
IH
Ren
Z
Z
Huang
S
S
Zeng
Y
Y
D000328:Adult; D002648:Child; D002675:Child, Preschool; D005260:Female; D005914:Globins / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D017086:beta-Thalassemia / Q000175:diagnosis / Q000235:genetics*
D005914:Globins