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

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

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

4 Citationer (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.

OriginalsprogEngelsk
TidsskriftHemoglobin
Vol/bind39
Udgave nummer5
Sider (fra-til)346-9
Antal sider4
ISSN0363-0269
DOI
StatusUdgivet - 2015

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