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6. A Novel Frameshift Mutation at Codons 138/139 (HBB: c.417_418insT) on the β-Globin Gene Leads to β-Thalassemia. Jiang F; Huang LY; Chen GL; Zhou JY; Xie XM; Li DZ Hemoglobin; 2017 Jan; 41(1):59-60. PubMed ID: 28460555 [TBL] [Abstract][Full Text] [Related]
7. Compound Heterozygosity for a Novel Mutation Codon 104 (-A) ( Qiu Y; Huang Y; Chen P; Wei S; Su Q; Zhang Z; Yang Z; Ye L; Huang J; Shen X; Mo W Hemoglobin; 2020 Nov; 44(6):402-405. PubMed ID: 33198537 [TBL] [Abstract][Full Text] [Related]
8. A Clinical Update of the Hb Siirt [β27(B9)Ala→Gly; HBB: c.83C>G] Hemoglobin Variant. Cappabianca MP; Colosimo A; Sabatucci A; Dainese E; Di Biagio P; Piscitelli R; Sarra O; Zei D; Amato A Hemoglobin; 2017 Jan; 41(1):53-55. PubMed ID: 28391745 [TBL] [Abstract][Full Text] [Related]
9. Elevated Hb A₂ Levels in a Patient with a Compound Heterozygosity for the (β⁺) -31 (A > G) and (β⁰) Codon 17 (A > T) Mutations Together with a Single α-Globin Gene. Panyasai S; Jaiping K; Pornprasert S Hemoglobin; 2015; 39(4):292-5. PubMed ID: 26029792 [TBL] [Abstract][Full Text] [Related]
10. Dominantly Inherited β-Thalassemia Caused by a Single Nucleotide Deletion in Exon 3 of the β-Globin Gene: Hb Xiangyang ( Lin XM; Jiang F; Li J; Li DZ Hemoglobin; 2022 Jul; 46(4):253-255. PubMed ID: 35686459 [TBL] [Abstract][Full Text] [Related]
11. Double Heterozygosity for Hb Durham-N.C. ( Cannata M; Cassarà F; Vinciguerra M; Licari P; Passarello C; Leto F; Lo Pinto C; Pitrolo L; Ganci R; Maggio A; Giambona A Hemoglobin; 2019 May; 43(3):210-213. PubMed ID: 31456457 [TBL] [Abstract][Full Text] [Related]
12. Ten Years of Routine α- and β-Globin Gene Sequencing in UK Hemoglobinopathy Referrals Reveals 60 Novel Mutations. Henderson SJ; Timbs AT; McCarthy J; Gallienne AE; Proven M; Rugless MJ; Lopez H; Eglinton J; Dziedzic D; Beardsall M; Khalil MS; Old JM Hemoglobin; 2016; 40(2):75-84. PubMed ID: 26635043 [TBL] [Abstract][Full Text] [Related]
13. Co-heredity of silent CAP + 1570 T>C (HBB:c*96T>C) defect and severe β-thal mutation: a cause of mild β-thalassemia intermedia. Vinciguerra M; Passarello C; Cassarà F; Leto F; Cannata M; Calvaruso G; Di Maggio R; Renda D; Maggio A; Giambona A Int J Lab Hematol; 2016 Feb; 38(1):17-26. PubMed ID: 26418075 [TBL] [Abstract][Full Text] [Related]
14. β-Globin Gene Mutations in Pediatric Patients with β-Thalassemia in the Region of Çukurova, Turkey. Guzelgul F; Seydel GS; Aksoy K Hemoglobin; 2020 Jul; 44(4):249-253. PubMed ID: 32664780 [TBL] [Abstract][Full Text] [Related]
15. First Report of a Dominantly Inherited β-Thalassemia Caused by a Novel Elongated β-Globin Chain. Farashi S; Rad F; Shahmohammadi B; Imanian H; Azarkeivan A; Najmabadi H Hemoglobin; 2016; 40(2):102-7. PubMed ID: 26850598 [TBL] [Abstract][Full Text] [Related]
16. Combination of Hb Heze [β144(HC1)Lys→Arg; HBB: c.434A>G] and β Li Y; Yan JM; Zhou JY; Lu YC; Li DZ Hemoglobin; 2017 Jan; 41(1):47-49. PubMed ID: 28366026 [TBL] [Abstract][Full Text] [Related]
17. β-Thalassemia major resulting from compound heterozygosity for HBB: c.92+2T>C [formerly known as IVS-I-2 (T>C)] and a novel β(0)-thalassemia frameshift mutation: HBB: c.209delG; p.Gly70Valfs*20. Kluge ML; Hoyer JD; Swanson KC; Oliveira JL Hemoglobin; 2014; 38(4):292-4. PubMed ID: 24986053 [TBL] [Abstract][Full Text] [Related]
18. A Novel β-Thalassemia Insertion/Frameshift Mutation Between Codons 77/78 (p.Leu78Profs*13 or HBB: c.235_236insC) Observed in a Family in Bangladesh. Aziz A; Das SA; Khan WA; Sadiya S; Banu B; Sarwardi G; Luna RZ Hemoglobin; 2017; 41(4-6):311-313. PubMed ID: 29313434 [TBL] [Abstract][Full Text] [Related]
19. The Spectrum of β-Thalassemia Mutations in Hamadan Province, West Iran. Alibakhshi R; Moradi K; Aznab M; Azimi A; Shafieenia S; Biglari M Hemoglobin; 2019 Jan; 43(1):18-22. PubMed ID: 31096791 [TBL] [Abstract][Full Text] [Related]
20. Molecular and phenotype characterization of an elongated β-globin variant produced by HBB:C.313delA. Lin W; Zhang Q; Shen Z; Qu X; Wang Q; Wei L; Qiu Y; Yang J; Xu X; Lao J Int J Lab Hematol; 2021 Dec; 43(6):1620-1627. PubMed ID: 34271589 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]