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496 related items for PubMed ID: 24986053

  • 1. 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
    [Abstract] [Full Text] [Related]

  • 2. Compound Heterozygosity for a Novel Mutation Codon 104 (-A) (HBB: c.313delA) and Codons 41/42 (-CTTT) (HBB: c.126_129delCTTT) Leading to β-Thalassemia Major in a Chinese Family.
    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
    [Abstract] [Full Text] [Related]

  • 3. 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
    [Abstract] [Full Text] [Related]

  • 4. 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 Jan; 39(4):292-5. PubMed ID: 26029792
    [Abstract] [Full Text] [Related]

  • 5. 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 Jan; 40(2):75-84. PubMed ID: 26635043
    [Abstract] [Full Text] [Related]

  • 6. Double Heterozygosity for Hb Durham-N.C. (HBB: c.344T>C) [β114(G16)Leu→Pro] and the IVS-I-110 (HBB: c.93-21G>A) Causing a Severe β-Thalassemia Phenotype.
    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
    [Abstract] [Full Text] [Related]

  • 7. First Report on the Coinheritance of α-Thalassemia and a Rare β-Thalassemia Compound Heterozygosity for the IVS-I-I(G>A)/IVS-II-705(T>G) Mutations in a Syrian Family.
    Murad H, Moassas F.
    Hemoglobin; 2019 Jan; 43(1):66-68. PubMed ID: 30843739
    [Abstract] [Full Text] [Related]

  • 8. A Novel Pathogenic β-Thalassemia Mutation Identified at Codon 8 (HBB: c.27delG) in a Bangladeshi Family Acquired De Novo.
    Hasan KN, Sufian A, Mazumder AK, Khaleque MA, Rahman M, Akhteruzzaman S.
    Hemoglobin; 2019 May; 43(3):162-165. PubMed ID: 31339392
    [Abstract] [Full Text] [Related]

  • 9. IVS-II-648/649 (-T) (HBB: c.316-202del) Triggers a Novel β-Thalassemia Phenotype.
    Azimi A, Alibakhshi R, Hayati H, Tahmasebi S, Alimoradi S.
    Hemoglobin; 2017 Jan; 41(1):44-46. PubMed ID: 28475449
    [Abstract] [Full Text] [Related]

  • 10. 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
    [Abstract] [Full Text] [Related]

  • 11. 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
    [Abstract] [Full Text] [Related]

  • 12. Molecular Scanning of β-Thalassemia in the Southern Region of Central Java, Indonesia; a Step Towards a Local Prevention Program.
    Rujito L, Basalamah M, Mulatsih S, Sofro AS.
    Hemoglobin; 2015 Jul; 39(5):330-3. PubMed ID: 26291967
    [Abstract] [Full Text] [Related]

  • 13. A novel β(0)-thalassemia frameshift mutation: [HBB:c.216delT].
    Konialis C, Hagnefelt B, Sevastidou S, Pispili K, Pangalos C.
    Hemoglobin; 2012 Jul; 36(6):586-8. PubMed ID: 23106651
    [Abstract] [Full Text] [Related]

  • 14. Two novel mutations in the 3' untranslated region of the beta-globin gene that are associated with the mild phenotype of beta thalassemia.
    Bilgen T, Clark OA, Ozturk Z, Akif Yesilipek M, Keser I.
    Int J Lab Hematol; 2013 Feb; 35(1):26-30. PubMed ID: 22862814
    [Abstract] [Full Text] [Related]

  • 15. Hb Knossos (HBB: c.82G > T), β-globin CD 5 (-CT) (HBB: c.17_18delCT) and δ-globin CD 59 (-a) (HBD: c.179delA) mutations in a Syrian patient with β-thalassemia intermedia.
    Moassas F, Nweder MS, Murad H.
    BMC Pediatr; 2019 Feb 18; 19(1):61. PubMed ID: 30777047
    [Abstract] [Full Text] [Related]

  • 16. 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 18; 38(1):17-26. PubMed ID: 26418075
    [Abstract] [Full Text] [Related]

  • 17. Normal Hb A2 β-thalassemia trait: frameshift mutation (HBB: c.187_251dup) in cis with the Hb A2' δ-globin gene missense mutation (HBD: c.49G>C).
    Waye JS, Eng B, Hellens L, Hohenadel BA, Nakamura LM, Walker L.
    Hemoglobin; 2013 Feb 18; 37(2):201-4. PubMed ID: 23398055
    [Abstract] [Full Text] [Related]

  • 18. Molecular Characterization and Hematological Aspects of Hb E-Myanmar [β26(B8)Glu→Lys and β65(E9)Lys→Asn, HBB: c.[79G>A;198G>C]): A Novel β-Thalassemic Hemoglobin Variant.
    Satthakarn S, Boonmee S, Panyasai S.
    Hemoglobin; 2020 Nov 18; 44(6):385-390. PubMed ID: 33222574
    [Abstract] [Full Text] [Related]

  • 19. The Spectrum of β-Thalassemia Mutations in a Population from the Brazilian Amazon.
    Silva AN, Cardoso GL, Cunha DA, Diniz IG, Santos SE, Andrade GB, Trindade SM, Cardoso Mdo S, Francês LT, Guerreiro JF.
    Hemoglobin; 2016 Nov 18; 40(1):20-4. PubMed ID: 26372288
    [Abstract] [Full Text] [Related]

  • 20. Molecular Characterization of β-Thalassemia Intermedia in Southeast Iran.
    Miri-Moghaddam E, Bahrami S, Naderi M, Bazi A, Karimipoor M.
    Hemoglobin; 2016 Jun 18; 40(3):173-8. PubMed ID: 27117567
    [Abstract] [Full Text] [Related]

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