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

doi:10.3109/03630269.2015.1054512

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 language	English
Journal	Hemoglobin
Volume	39
Issue number	5
Pages (from-to)	346-9
Number of pages	4
ISSN	0363-0269
DOIs	https://doi.org/10.3109/03630269.2015.1054512
Publication status	Published - 2015

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10.3109/03630269.2015.1054512

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title = "Novel 31.2 kb α0 Deletion in a Palestinian Family with α-Thalassemia",

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.",

author = "Christian Brieghel and Henrik Birgens and Henrik Frederiksen and Hertz, \{Jens M\} and Maria Steenhof and Jesper Petersen",

year = "2015",

doi = "10.3109/03630269.2015.1054512",

language = "English",

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journal = "Hemoglobin",

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TY - JOUR

T1 - Novel 31.2 kb α0 Deletion in a Palestinian Family with α-Thalassemia

AU - Brieghel, Christian

AU - Birgens, Henrik

AU - Frederiksen, Henrik

AU - Hertz, Jens M

AU - Steenhof, Maria

AU - Petersen, Jesper

PY - 2015

Y1 - 2015

N2 - 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.

AB - 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.

UR - https://www.scopus.com/pages/publications/84940735708

U2 - 10.3109/03630269.2015.1054512

DO - 10.3109/03630269.2015.1054512

M3 - Journal article

C2 - 26114741

SN - 0363-0269

VL - 39

SP - 346

EP - 349

JO - Hemoglobin

JF - Hemoglobin

IS - 5

ER -

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

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