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Compound heterozygosity for a rare small deletion and a common point mutation in the beta‐globin gene: report of two Chinese families
Author(s) -
SHANG X.,
RAO Z.,
LOU J.,
LI W.,
XIONG F.,
ZHOU H. P.,
XU X.
Publication year - 2011
Publication title -
international journal of laboratory hematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.705
H-Index - 55
eISSN - 1751-553X
pISSN - 1751-5521
DOI - 10.1111/j.1751-553x.2010.01253.x
Subject(s) - point mutation , compound heterozygosity , mutation , exon , genetics , loss of heterozygosity , thalassemia , biology , gene , microbiology and biotechnology , gene mutation , chinese family , allele
Summary Introduction: 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). Conclusion: 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.