Abstract:
:We report a large novel α-globin cluster deletion that we named - -PG (NG_000006.1: g.93628_542759del450131), in a Chinese family. This large deletion is approximately 450 kb long, spanning from upstream of the PolR3k gene at the 5' end to the RAB11FIP3 gene at the 3' end of chromosome 16p13.3. This deletion removes all the globin distal regulatory elements as well as the whole α-globin gene cluster. Patients with heterozygous - -PG/αα had red blood cell (RBC) indices consistent with α-thalassemia (α-thal) trait, but no apparent increase in a cancer tendency or mental disability, microcephaly, relative hypertelorism, unusual facies or genital anomalies.
journal_name
Hemoglobinjournal_title
Hemoglobinauthors
He S,Qin Q,Huang P,Zhang S,Yi S,Lin L,Zuo Y,Chen Q,Deng J,Zheng C,Chen Bdoi
10.1080/03630269.2017.1366919subject
Has Abstractpub_date
2017-01-01 00:00:00pages
297-299issue
4-6eissn
0363-0269issn
1532-432Xjournal_volume
41pub_type
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