A novel 7.9 kb deletion causing alpha+-thalassaemia in two independent families of Indian origin.
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-- --).
Harteveld
Cornelis L
CL
Department of Human and Clinical Genetics, Leiden University Medical Centre, The Netherlands. c.l.harteveld@lumc.nl
van Delft
Peter
P
Wijermans
Pierre W
PW
Kappers-Klunne
Mies C
MC
Weegenaar
Jitske
J
Losekoot
Monique
M
Giordano
Piero C
PC
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*
D005914:Globins