Novel 31.2 kb α0 Deletion in a Palestinian Family with α-Thalassemia

Christian Brieghel, Henrik Birgens, Henrik Frederiksen, Jens M Hertz, Maria Steenhof, Jesper Petersen

    4 Citations (Scopus)

    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.

    Original languageEnglish
    JournalHemoglobin
    Volume39
    Issue number5
    Pages (from-to)346-9
    Number of pages4
    ISSN0363-0269
    DOIs
    Publication statusPublished - 2015

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