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Journal Abstract Search

431 related items for PubMed ID: 31339392

  • 1. 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]

  • 2. 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; 44(6):385-390. PubMed ID: 33222574
    [Abstract] [Full Text] [Related]

  • 3. 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]

  • 4. Severe Thalassemia Caused by Hb Zunyi [β147(HC3)Stop→Gln; HBB: c.442T>C)] on the β-Globin Gene.
    Su Q, Chen S, Wu L, Tian R, Yang X, Huang X, Chen Y, Peng Z, Chen J.
    Hemoglobin; 2019 Jan 18; 43(1):7-11. PubMed ID: 31084366
    [Abstract] [Full Text] [Related]

  • 5. Krüppel-Like Factor 1 Gene Mutations in Thalassemia Patients from North Iran: Report of a New Mutation Associated with β-Thalassemia Intermedia.
    Tamaddoni A, Khabaz Astaneh S, Tabaripour R, Akhavan-Niaki H.
    Hemoglobin; 2019 Jan 18; 43(1):12-17. PubMed ID: 30747024
    [Abstract] [Full Text] [Related]

  • 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 18; 41(1):59-60. PubMed ID: 28460555
    [Abstract] [Full Text] [Related]

  • 7. 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 18; 44(6):402-405. PubMed ID: 33198537
    [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 18; 41(1):53-55. PubMed ID: 28391745
    [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 Jan 18; 39(4):292-5. PubMed ID: 26029792
    [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 (HBB: c.393delT).
    Lin XM, Jiang F, Li J, Li DZ.
    Hemoglobin; 2022 Jul 18; 46(4):253-255. PubMed ID: 35686459
    [Abstract] [Full Text] [Related]

  • 11. 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 18; 43(3):210-213. PubMed ID: 31456457
    [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 May 18; 40(2):75-84. PubMed ID: 26635043
    [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 18; 38(1):17-26. PubMed ID: 26418075
    [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 18; 44(4):249-253. PubMed ID: 32664780
    [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 Jul 18; 40(2):102-7. PubMed ID: 26850598
    [Abstract] [Full Text] [Related]

  • 16. Combination of Hb Heze [β144(HC1)Lys→Arg; HBB: c.434A>G] and β0-Thalassemia in a Chinese Patient with β-Thalassemia Intermedia.
    Li Y, Yan JM, Zhou JY, Lu YC, Li DZ.
    Hemoglobin; 2017 Jan 18; 41(1):47-49. PubMed ID: 28366026
    [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 Jan 18; 38(4):292-4. PubMed ID: 24986053
    [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 Jan 18; 41(4-6):311-313. PubMed ID: 29313434
    [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 18; 43(1):18-22. PubMed ID: 31096791
    [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 18; 43(6):1620-1627. PubMed ID: 34271589
    [Abstract] [Full Text] [Related]

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