A novel 7.9 kb deletion causing alpha+-thalassaemia in two independent families of Indian origin

Autor:	Cornelis L, Harteveld, Peter, van Delft, Pierre W, Wijermans, Mies C, Kappers-Klunne, Jitske, Weegenaar, Monique, Losekoot, Piero C, Giordano
Rok vydání:	2003
Předmět:	Adult Male Blotting Southern Suriname alpha-Thalassemia Humans Female Middle Aged Child Gene Deletion In Situ Hybridization Globins Netherlands
Zdroj:	British journal of haematology. 120(2)
ISSN:	0007-1048
Popis:	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-- --).
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=pmid________::ccabf88075d694d2d87fcfe1c2aab281 https://pubmed.ncbi.nlm.nih.gov/12542500 Zobrazit plný text záznamu Plný text