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.
Originalsprog | Engelsk |
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Tidsskrift | Hemoglobin |
Vol/bind | 39 |
Udgave nummer | 5 |
Sider (fra-til) | 346-9 |
Antal sider | 4 |
ISSN | 0363-0269 |
DOI | |
Status | Udgivet - 2015 |