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.
authors.affiliation: a Center for Haemoglobinopathies, Department of Haematology, Copenhagen University Hospital , Herlev , Denmark.
authors.forename: Christian
authors.initials: C
authors.lastname: Brieghel
authors.forename: Henrik
authors.initials: H
authors.lastname: Birgens
authors.forename: Henrik
authors.initials: H
authors.lastname: Frederiksen
authors.forename: Jens M
authors.initials: JM
authors.lastname: Hertz
authors.forename: Maria
authors.initials: M
authors.lastname: Steenhof
authors.forename: Jesper
authors.initials: J
authors.lastname: Petersen
mesh_terms: D000293:Adolescent; D000328:Adult; D018912:Arabs / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D003241:Consanguinity; D004909:Erythrocyte Indices; D005260:Female; D023061:Gene Order; D056426:Genetic Loci; D005838:Genotype; D006447:Hemoglobin H / Q000235:genetics / Q000378:metabolism; D006801:Humans; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D010641:Phenotype; D017384:Sequence Deletion; D055815:Young Adult; D055542:alpha-Globins / Q000235:genetics*; D017085:alpha-Thalassemia / Q000097:blood / Q000175:diagnosis / Q000235:genetics*
chemical_list: D055542:alpha-Globins; D006447:Hemoglobin H
keywords: Hb H (β4); multiplex ligation-dependent probe amplification (MLPA); α-Globin gene cluster; α-thalassemia (α-thal) deletion; – –DANE