Compound heterozygosity for a rare small deletion and a common point mutation in the beta-globin gene: report of two Chinese families.
BACKGROUND
Most cases of β-thalassemia are caused by point mutations in the β-globin gene. Only a minority of β-thalassemia mutations are small deletions in the exons of the β-globin gene.


METHODS
Here, we report two cases of β-thalassemia that were caused by compound heterozygosity for a rare small deletion and a common point mutation.


RESULTS
Patient A carried a rare 14-bp deletion (CD89-93) mutation plus the common mutation -28(A>G). Patient B carried a rare 13-bp deletion (CD54-58) plus the common mutation IVS-2-654(C>T).


CONCLUSIONS
Patient B is the second report of the CD54-58(-13 bp) deletion. However, our report differs from the previous report in two ways: we performed a family study based on multiple samples; and the carriers and patient showed an elevated level of HbF, which was not observed in the previous case.
Shang
X
X
Department of Medical Genetics, School of Basic Medical Sciences, Southern Medical University, Guangzhou, Guangdong, China.
Rao
Z
Z
Lou
J
J
Li
W
W
Xiong
F
F
Zhou
H P
HP
Xu
X
X
D044466:Asian People / Q000235:genetics; D001483:Base Sequence; D002675:Child, Preschool; D005260:Female; D006579:Heterozygote; D006801:Humans; D007223:Infant; D008297:Male; D010375:Pedigree; D017354:Point Mutation; D016415:Sequence Alignment; D017384:Sequence Deletion; D055544:beta-Globins / Q000235:genetics*; D017086:beta-Thalassemia / Q000235:genetics*
D055544:beta-Globins