Novel 31.2 kb alpha(0) Deletion in a Palestinian Family with alpha-Thalassemia

作者：Brieghel Christian; Birgens Henrik; Frederiksen Henrik; Hertz Jens M; Steenhof Maria; Petersen Jesper^*

来源：Hemoglobin, 2015, 39(5): 346-349.

DOI：10.3109/03630269.2015.1054512

• alpha-Globin gene cluster
• alpha-thalassemia (alpha-thal) deletion
• --(DANE)
• Hb H (beta 4)
• multiplex ligation-dependent probe amplification (MLPA)

A previously unknown alpha(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 (beta 4) disease with a compound heterozygosity for the common -alpha(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 alpha-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.

• 出版日期2015