title: A novel 7.9 kb deletion causing alpha+-thalassaemia in two independent families of Indian origin.
abstract: We describe the characterization of a novel 7.9 kb deletion that eliminated one of the duplicated alpha-globin genes, causing an alpha+-thalassaemia phenotype in two independent carriers of Suriname-Indian origin. The molecular characterization of the deletion breakpoint fragment revealed neither involvement of Alu repeat sequences nor the presence of homologous regions prone to recombination, suggesting a non-homologous recombination event. This alpha+-thalassaemia deletion was found to give rise to an atypical haemoglobin H (HbH) disease characterized by a non-transfusion-dependent moderate microcytic hypochromic anaemia in combination with a poly adenylation signal mutation of the alpha-globin gene (alpha2 AATAAA --> AATA-- --).
authors.affiliation: Department of Human and Clinical Genetics, Leiden University Medical Centre, The Netherlands. c.l.harteveld@lumc.nl
authors.forename: Cornelis L
authors.initials: CL
authors.lastname: Harteveld
authors.forename: Peter
authors.initials: P
authors.lastname: van Delft
authors.forename: Pierre W
authors.initials: PW
authors.lastname: Wijermans
authors.forename: Mies C
authors.initials: MC
authors.lastname: Kappers-Klunne
authors.forename: Jitske
authors.initials: J
authors.lastname: Weegenaar
authors.forename: Monique
authors.initials: M
authors.lastname: Losekoot
authors.forename: Piero C
authors.initials: PC
authors.lastname: Giordano
mesh_terms: D000328:Adult; D015139:Blotting, Southern; D002648:Child; D005260:Female; D017353:Gene Deletion; D005914:Globins / Q000235:genetics*; D006801:Humans; D017403:In Situ Hybridization; D008297:Male; D008875:Middle Aged; D009426:Netherlands; D013532:Suriname / Q000208:ethnology; D017085:alpha-Thalassemia / Q000235:genetics*
chemical_list: D005914:Globins