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3. Distinct phenotypic expression associated with a new hyperunstable alpha globin variant (Hb heraklion, alpha1cd37(C2)Pro>0): comparison to other alpha-thalassemic hemoglobinopathies. Traeger-Synodinos J; Papassotiriou I; Metaxotou-Mavrommati A; Vrettou C; Stamoulakatou A; Kanavakis E Blood Cells Mol Dis; 2000 Aug; 26(4):276-84. PubMed ID: 11042028 [TBL] [Abstract][Full Text] [Related]
4. A novel beta-globin structural mutant, Hb Brescia (beta 114 Leu-Pro), causing a severe beta-thalassemia intermedia phenotype. Murru S; Poddie D; Sciarratta GV; Agosti S; Baffico M; Melevendi C; Pirastu M; Cao A Hum Mutat; 1992; 1(2):124-8. PubMed ID: 1301199 [TBL] [Abstract][Full Text] [Related]
5. Description of two new alpha variants: Hb Canuts [alpha85(F6)Asp-->His (alpha1)] and Hb Ambroise Pare [alpha117(GH5)Phe-->Ile (alpha2)]; two new beta variants: Hb Beaujolais [beta84(EF8)Thr-->Asn] and Hb Monplaisir [beta147 (Tyr-Lys-Leu-Ala-Phe-Phe-Leu-Leu-Ser-Asn-Phe-Tyr-158-COOH)] and one new delta variant: Hb (A2)North Africa [delta59(E3)Lys-->Met]. Joly P; Lacan P; Bererd M; Garcia C; Zanella-Cleon I; Becchi M; Aubry M; Couprie N; Francina A Hemoglobin; 2009; 33(3):196-205. PubMed ID: 19657833 [TBL] [Abstract][Full Text] [Related]
6. Hb Filottrano [codon 120 (-A)]: a novel frameshift mutation in exon 3 of the β-globin gene causing dominantly inherited β-thalassemia intermedia. Amato A; Cappabianca MP; Perri M; Zaghis I; Mastropietro F; Ponzini D; Di Biagio P; Piscitelli R Hemoglobin; 2012; 36(5):480-4. PubMed ID: 22992010 [TBL] [Abstract][Full Text] [Related]
7. A deletion of 11 bp (CD 131-134) in exon 3 of the beta-globin gene produces the phenotype of inclusion body beta-thalassemia. Ropero P; Villegas A; Martínez M; Ataulfo González Fernández F; Benavente C; Mateo M Ann Hematol; 2005 Sep; 84(9):584-7. PubMed ID: 15977037 [TBL] [Abstract][Full Text] [Related]
8. Hb Montreal II: a novel elongated beta-globin variant caused by a frameshift mutation [beta142 (-C)]. Chagnon P; Mollica L; Belisle C; Deveaux C; Angelo GD; Roy DC; Soulières D; Busque L Hemoglobin; 2008; 32(4):351-9. PubMed ID: 18654885 [TBL] [Abstract][Full Text] [Related]
9. Hb Niigata [beta1(NA1)Val-->Leu] in a Romanian individual resulting from another nucleotide substitution than that found in the Japanese. Moradkhani K; Henthorn J; Riou J; Phelan L; Préhu C; Wajcman H Hemoglobin; 2007; 31(4):477-82. PubMed ID: 17994382 [TBL] [Abstract][Full Text] [Related]
11. A novel beta-delta globin gene fusion, anti-Lepore Hong Kong, leads to overexpression of delta globin chain and a mild thalassaemia intermedia phenotype when co-inherited with beta(0)-thalassaemia. So CC; Chan AY; Tsang ST; Lee AC; Au WY; Ma ES; Chan LC Br J Haematol; 2007 Jan; 136(1):158-62. PubMed ID: 17222202 [TBL] [Abstract][Full Text] [Related]
13. Hemoglobin Hakkari: an autosomal dominant form of beta thalassemia with inclusion bodies arising from de novo mutation in exon 2 of beta globin gene. Kanathezhath B; Hazard FK; Guo H; Kidd J; Azimi M; Kuypers FA; Vichinsky EP; Lal A Pediatr Blood Cancer; 2010 Feb; 54(2):332-5. PubMed ID: 19852066 [TBL] [Abstract][Full Text] [Related]
14. Mutational spectrum of delta-globin gene in the Portuguese population. Morgado A; Picanço I; Gomes S; Miranda A; Coucelo M; Seuanes F; Seixas MT; Romão L; Faustino P Eur J Haematol; 2007 Nov; 79(5):422-8. PubMed ID: 17916081 [TBL] [Abstract][Full Text] [Related]
15. Hb Bleuland [alpha108(G15)Thr-->Asn, ACC-->AAC (alpha2)]: a new abnormal hemoglobin associated with a mild alpha-thalassemia phenotype. Harteveld CL; Versteegh FG; Kok PJ; van Rooijen-Nijdam IH; van Delft P; Giordano PC Hemoglobin; 2006; 30(3):349-54. PubMed ID: 16840225 [TBL] [Abstract][Full Text] [Related]
16. Hb St. Jozef, A Val-->Leu N-terminal mutation leading to retention of the methionine, and partial acetylation found in the globin gene in Cis with a -alpha3.7 thalassemia deletion. Harteveld CL; Versteegh FG; van Leer EH; Starreveld JS; Kok PJ; van Rooijen-Nijdam I; van Delft P; Zanella-Cleon I; Becchi M; Wajcman H; Giordano PC Hemoglobin; 2007; 31(3):313-23. PubMed ID: 17654068 [TBL] [Abstract][Full Text] [Related]
17. Two missense mutations in the beta-globin gene can cause severe beta thalassemia. Hemoglobin Medicine Lake (beta 32[B14]leucine-->glutamine; 98 [FG5] valine-->methionine). Coleman MB; Lu ZH; Smith CM; Adams JG; Harrell A; Plonczynski M; Steinberg MH J Clin Invest; 1995 Feb; 95(2):503-9. PubMed ID: 7860732 [TBL] [Abstract][Full Text] [Related]
19. Hb A2-Pasteur-Tunis [delta59(E3)Lys-->Asn, AAG-->AAC]: a new delta chain variant detected by DNA sequencing in a Tunisian carrier of the codon 39 (C-->T) beta0-Thalassemia mutation. Moumni I; Zorai A; Daoued BB; Mosbahi I; Omar S; Kaabachi N; Dellagi K; Abbes S Hemoglobin; 2007; 31(1):23-9. PubMed ID: 17365002 [TBL] [Abstract][Full Text] [Related]
20. Two new beta0-thalassemic mutations: a deletion (-CC) at codon 142 or overlapping codons 142-143, and an insertion (+T) at codon 45 or overlapping codons 44-45/45-46 of the beta-globin gene. Lacan P; Aubry M; Couprie N; Francina A Hemoglobin; 2007; 31(2):159-65. PubMed ID: 17486497 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]