Screening for mutations in the α-globin genes leading to abnormal hemoglobin variants with high resolution melting analysis.
BACKGROUND
α-Thalassemia is one of the most commonly inherited single-gene disorders in southern China. It is important to identify non-deletional α-thalassemia in areas where α-thalassemia is prevalent, since non-deletional HbH disease (--/α(T)α or --/αα(T)) is caused by the interaction of a non-deletional α-thalassemia with α-thalassemia-1 trait (--/αα). In this study, we developed an optimized molecular protocol for screening for α-globin gene mutations and validated the feasibility of using it as a rapid detection method.


METHODS
An approach based on high-resolution melting (HRM) analysis was used. A total of 74 samples, including 54 abnormal α-chain samples and 20 control samples, were tested.


RESULTS
All of the 54 samples with point mutations at the exons 1, 2 or 3 of the α-globin genes, including 33 non-deletional α-thalassemia, were successfully detected.


CONCLUSIONS
HRM has the potential to become an efficient, rapid screening method for non-deletional α-thalassemia.
Prenatal Diagnostic Center, Guangzhou Maternal and Neonatal Hospital, Guangzhou Women and Children Medical Center, Guangzhou Medical College, Guangzhou, Guangdong, PR China.
Ying-Na
YN
Liu
Ru
R
Li
Jian-Ying
JY
Zhou
Xing-Mei
XM
Xie
Jian
J
Li
Can
C
Liao
Dong-Zhi
DZ
Li
D005820:Genetic Testing; D014644:Genetic Variation; D006455:Hemoglobins, Abnormal / Q000235:genetics*; D006801:Humans; D009154:Mutation; D044366:Transition Temperature; D055542:alpha-Globins / Q000235:genetics*; D017085:alpha-Thalassemia / Q000235:genetics
D006455:Hemoglobins, Abnormal; D055542:alpha-Globins