EGAGenomicsMarchi Ninahttps://ega-archive.org/dacs/EGAC00001000245EGAEGA DAC EGAC00001000245EGAmarchinina@gmail.comβ-Thalassemia is a genetic disease caused by a defect in the production of the β-like globin chain. More than 200 known different variants can lead to the disease and are mainly found in populations that have been exposed to malaria parasites. We recently described a duplication of four nucleotides in the first exon of β-globin gene in several families of patients living in Nord-Pas-de-Calais (France). Using the genotypes at 12 microsatellite markers surrounding the β-globin gene of four unrelated variant carriers plus an additional one recently discovered, we found that they shared a common haplotype indicating a founder effect that was estimated to have taken place 225 years ago (nine generations). In order to determine whether this variant arose in this region of Northern Europe or was introduced by migrants from regions of the world where thalassemia is endemic, we genotyped the first 4 unrelated variant carriers and 32 controls from Nord-Pas-de-Calais for 97 European ancestry informative markers (EAIMs). Using these EAIMs and comparing with population reference panels, we demonstrated that the variant carriers were very similar to the controls and were closer to North European populations than to South European or Middle-East populations. Rare β-thalassemia variants have already been described in patients sampled in non-endemic regions, but it is the first proof of a founder effect in Northern Europe.Confirmation of a founder effect in a Northern European population of a new β-globin variant: HBB:c.23_26dup (codons 8/9 (+AGAA)).Marchi Nina N, Pissard Serge S, Cliquennois Manuel M, Vasseur Christian C, Le Metayer Nathalie N, Mereau Claude C, Jouet Jean Pierre JP, Georgel Anne-France AF, Genin Emmanuelle E, Rose Christian CSchool-Age Populations, Populations, Occidental, Effects, Founder, white, AgaB, Population, AgaA, School Age Populations, oxygen-carrying, beta-globin, School-Age, CD113t-C, Caucasian, Founder Effects, Whites, agarose 3-glycanohydrolase activity, European, School Age, agarose 4-glycanohydrolase activity., Globin, White, globin, School-Age Population, School Age Population, hemerythrin, hemocyanin, Effect, Caucasoid, agarase activity, CaucasiansThalassemia Intermedia, Thalassemia Minor (beta Thalassemia Minor), beta Globin, Type Microcytemia, Cooley's, Disease, Erythroblastic Anemia, Thalassemia Major, Cooley's Anemia, B-THAL, Microcytemia, Spinorphin, Non alpha Globin Chain, Type Thalassemia, Majors, Data Base., beta-Globin, Minors, beta Globins, beta-globin, Mutations, Anemia, Type Thalassemias, CD113t-C, Hemoglobin F Disease, Thalassemia Intermedias, Intermedias, Thalassemias, Hemoglobin beta chain, Mediterranean Anemia, Thalassemia Minor, Thalassemia Minor (beta-Thalassemia Minor), beta Type Thalassemias, Mediterranean Anemias, beta Type Microcytemia, Intermedia, beta Type, beta Thalassemias, Cooleys, Non-alpha Globin Chain, beta-thalassemia, Thalassemia Minors (beta-Thalassemia Minor), Erythroblastic, beta, Hemoglobin F, Beta-globin, beta Type Microcytemias, LVV-hemorphin-7, Type Microcytemias, beta Type Thalassemia, Thalassemia Majors (beta-Thalassemia Major), Thalassemia, Anemias, Unspecified, Microcytemias, Mediterranean, Major, Thalassemia (beta-Thalassemia Minor), Thalassemia Major (beta Thalassemia Major), Cooley, Minor, Thalassemia Major (beta-Thalassemia Major), b-globin, Thalassemia (beta-Thalassemia Major), beta ThalassemiaShakB, eIF2C2, Disorders, Materials, l(2)k08121, thalassemia Hb-S disease with crisis, papular acrodermatitis of childhood, CG1321, Mini Exon, CG32508, CG4399, l(2)04845, School-Age, pass, Single-Gene, diseases, isolation membrane, CG7439, Thalassemias, 2, diseases and disorders, 3, 6, "thalassemia Hb-S disease without crisis" EXACT [], Effect, su(w[sp]), East, α- and β-thalassemia, pre-autophagosomal structure, human disease, Occidental, Shak B, pre-mortem, Defects, sickle-cell thalassemia with crisis, Defect, l(1)TH73, Estimated, FBW6, l(2)4845, FBW7, Fbw7, CG34358, ago2, geographical area, ago1, Single-Gene Defect, CDC4, Cdc4, Fever, Fbx30, Homo sapiens disease, l(1)LB21, PAC, R-9-29, Dm Ago1, Ago2, Ago1, Nucleotide, Marsh, shkB, l(1)W3b, cdc4, sickle-cell thalassemia without crisis, Pas, PAS, DmelCG7439, l(1)W3, ago1-1, Crosti-gianotti syndrome, PLATEST, Dm Ago2, DP, shB, Genetic Disorders, Founder, DmFbw7, DmelCG15010, Plasmodium, anon-WO0257455.29, helminthology, inx8, white, infections, Haplotype, nj-156, DmelCG4399, pas, Fbwd6, perivacuolar space, European, School Age, Diseases, Inborn Genetic Disease, Genetic Materials, Fbxw6, Genetic Disorder, AG02, Genetic Material, W3, nucleotides, CG13452, Caucasians, Inborn, Populations, positional polypeptide feature, Plasmodium Infection, anon-WO03040301.224, l(1)R-10-3, common, INSDC_feature:gene, exposed, l(1)R-10-7, Saint Pierre and Miquelon, Shak-B, oxygen-carrying, phagophore, Genetic Diseases, disease, living, Parasite, Dmel_CG12678, Ago, Patient, AGO, Material, Hereditary, acrodermatitis, Cistron, White, St. Pierre and Miquelon, School-Age Population, hemocyanin, parasites, Platelets, DmelCG6671, Single-Gene Defects, l(1)G0014, other disease, SEL-10, hCdc4, ago, 1110001A17Rik, thalassemia Hb-S disease without crisis, Effects, region or site annotation, AGO 2, shak-B, Remittent, Gene, Hereditary Diseases, Gianotti Crosti syndrome, MRE20, FBXW3, FBXW6, thalassemia, Plasmodium Infections, Northern Europe, papular infantile, phagophore assembly site, Caucasian, Mini-Exon, Miquelon and St. Pierre, disease or disorder, Neisseria gonorrhoeae, R9-29, hemerythrin, Southern Europe, School-Age Populations, positional, Genetic, Infections, Inborn Genetic, dAGO2, dAGO1, Population, "thalassemia Hb-S disease with crisis" EXACT [], Genotypes, non-neoplastic, Fbxo30, Miquelon and Saint Pierre, l(1)R-9-29, extruding from, nj156, Founder Effects, SEL10, Clients, Dmel_CG32508, dAgo1, Disorder, dAgo2, FBXO30, disorder, globin, DmelCG34358, School Age Population, plasmodiosis, Single Gene Defects, Marsh Fever, Paludism, CG15451, FBX30, Disease, Genetic Disease, Ago-1, Ago-2, exits through, disorders, anon-WO0118547.345, medical condition, infantile lichenoid, Cistrons, Client, "Sickle-cell thalassemia without crisis" EXACT [ICD9CM_2006:282.41], Western Europe., CG6671, Genogroup, l(1)G0500, Western Europe, Infection, hAgo, sequence, condition, rare (European definition), l(2)k00208, Caucasoid, Corsica, CG12678, exonic region, Mini-Exons, Exon, l(1)19Eb, protozoology, School Age Populations, primary structure of sequence macromolecule, EAST, "Sickle-cell thalassemia with crisis" EXACT [ICD9CM_2006:282.42], Genogroups, Hereditary Disease, ago-2, Whites, Inborn Genetic Diseases, protozoa, SCF[Ago], Globin, Remittent Fever, l(1)R-10-14, CG15010, 225, EG:133E12.4, Mendelian disease, E81falseA new beta-globin mutation responsible of a beta-thalassemia (HbVar database ID 2928) was observed in 8 unrelated French familieData Access Committee EGAC00001000245EGAC00001000245960625469539EGAS00001000980EGAD00010000624EGAD00010000626