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Long J.,Laboratory of Medical Genetics | Long J.,Qinzhou Key Laboratory of Molecular and Cell Biology on Endemic Diseases | Long J.,Qinzhou University | Pang W.,Laboratory of Medical Genetics | And 12 more authors.
Hemoglobin | Year: 2015

The Qinzhou α-thalassemia (α-thal) or -α21.9 deletion was first described at the Qinzhou Maternal and Child Health Care Hospital, Qinzhou, Guangxi, Peoples Republic of China (PRC) in 2013. The molecular biological mechanism by which this allele leads to α-thal involves the deletion of a 21.9 kb DNA fragment of the α-globin gene cluster (NG-000006.1), designated as -α21.9. During routine screening, a new family with -α21.9 was found by the research group. This is the first time that an adult patient with the -α21.9/αα genotype and a 6-month-old baby with the -α21.9/-SEA (Southeast Asian) genotype were detected in one family. The discovery of this family demonstrates that there is a certain risk for the Qinzhou α-thal deletion in the southern regions of Guangxi Province, PRC. The detection of the adult patient with the -α21.9/αα genotype and the analysis of hematological data are important supplements for -α21.9 research. Additionally, Hb Barts (γ4) and Hb H (β4) were detected in the 6-month-old, confirming that the baby with the -α21.9/-SEA genotype also carries Hb H disease. The analysis of this family verifies that the -α21.9 deletion is an α+-thal allele. © 2015 Taylor & Francis.

Pang W.,Laboratory of Medical Genetics | Sun L.,Laboratory of Medical Genetics | Long J.,Qinzhou University | Weng X.,Laboratory of Medical Genetics | And 9 more authors.
Hemoglobin | Year: 2016

The 2.4 kb (or −α2.4) deletion in the α-globin gene cluster (NG_000006.1) is an α+-thalassemia (α+-thal) allele. The molecular basis of −α2.4 is a deletion from 36860 to 39251 of the α-globin gene cluster. It was reported by three research groups in 2005, 2012 and 2014, respectively. In routine thalassemia screening studies by this research group, we found an individual with the −α2.4/αα genotype and an Hb H (β4) disease patient whose genotype was – –SEA/−α2.4. Samples from the parents of the carrier of the −α2.4/αα genotype were collected to perform pedigree analysis, and the proband’s mother’s genotype was diagnosed to be – –SEA/−α2.4. The research revealed that the −α2.4 allele exists in the population of southern Guangxi, People’s Republic of China. © 2016 Taylor & Francis.

Pang W.,Laboratory of Medical Genetics | Weng X.,Laboratory of Medical Genetics | Weng X.,Qinzhou Key Laboratory of Molecular and Cell Biology on Endemic Diseases | Ye X.,Qinzhou Key Laboratory of Molecular and Cell Biology on Endemic Diseases | And 11 more authors.
Gene | Year: 2016

Objective: During thalassemia screening, a previously unidentified α2 gene variation in α-globin gene cluster was isolated. This variation was distinct from other variations known to confer thalassemia as assessed by conventional thalassemia genotype analysis. Because the sample in the thalassemia screening was positive (MCV = 83.6 fL, MCH = 26.1 pg/cell, Hb = 11.3 g/dL), further analysis was required. Material and methods: MLPA (multiplex ligation-dependent probe amplification) and sequencing were used for analysis, and a qPCR system was designed for the frequency study. Results: The MLPA result showed that there was a mutation or small fragment deletions between 34247 (160 bp probe) and 34618 (196 bp probe) in α-globin gene cluster (NG_000006.1). Through sequencing, this variation was identified as HBA2: c.301-24delGinsCTCGGCCC. The gene polymorphisms similar to HBA2:c.301-24delGinsCTCGGCCC are α121 and α212. Since α212 is unrelated to microcytosis, and the structure of HBA2: c.301-24delGinsCTCGGCCC is similar to α212, this change is more appropriately considered as a polymorphism. The allele frequency of HBA2: c.301-24delGinsCTCGGCCC is 0.184% in this region. Conclusions: There is a certain ratio for HBA2:c.301-24delGinsCTCGGCCC carriers among the Chinese population. The HBA2:c.301-24delGinsCTCGGCCC variant results in an abnormal result from MLPA analysis. Investigators performing thalassemia screening in Guangxi region should be aware of the HBA2:c.301-24delGinsCTCGGCCC variant to avoid misinterpretation of the MLPA results. © 2016 Elsevier B.V.

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