| Literature DB >> 26114741 |
Christian Brieghel1, Henrik Birgens, Henrik Frederiksen, Jens M Hertz, Maria Steenhof, Jesper Petersen.
Abstract
A previously unknown α(0) deletion, designated - -(DANE), was found in three generations of a Danish family of Palestinian origin. Six patients were heterozygous and three patients had deletional Hb H (β4) disease with a compound heterozygosity for the common -α(3.7) (rightward) deletion. Multiplex ligation-dependent probe amplification (MLPA) supplemented by repeated polymerase chain reaction (PCR) amplification identified the 5' and 3' breakpoints in the α-globin gene cluster. This novel 31.2 kb deletion (NG_000006.1: g.8800_40007del31208) leads to the removal of the HBZ, HBA2 and HBA1 genes.Entities:
Keywords: Hb H (β4); multiplex ligation-dependent probe amplification (MLPA); α-Globin gene cluster; α-thalassemia (α-thal) deletion; – –DANE
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Year: 2015 PMID: 26114741 DOI: 10.3109/03630269.2015.1054512
Source DB: PubMed Journal: Hemoglobin ISSN: 0363-0269 Impact factor: 0.849