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Journal Abstract Search

125 related items for PubMed ID: 38360540

  • 1. Splice Acceptor Mutation [HBB:c.93-2A > T] in a Patient with Hb S/β0-Thalassemia.
    Waye JS, Hanna M, Nakamura L, Walker L, Eng B, Nfonsam LE.
    Hemoglobin; 2024 Mar; 48(2):116-117. PubMed ID: 38360540
    [Abstract] [Full Text] [Related]

  • 2. Hb S/β-Thalassemia in the REDS-III Brazil Sickle Cell Disease Cohort: Clinical, Laboratory and Molecular Characteristics.
    Belisário AR, Carneiro-Proietti AB, Sabino EC, Araújo A, Loureiro P, Máximo C, Flor-Park MV, Rodrigues DDOW, Ozahata MC, McClure C, Mota RA, Gomes Moura IC, Custer B, Kelly S, Recipient Epidemiology and Donor Evaluation Study (REDS-III) International Component Brazil.
    Hemoglobin; 2020 Jan; 44(1):1-9. PubMed ID: 32172616
    [Abstract] [Full Text] [Related]

  • 3. Hb S (HBB: c.20A>T) and α- and β-Thalassemia Coinheritance in Iranian Patients.
    Azarkeivan A, Cohan N, Niazkar HR, Azizi A, Rad F.
    Hemoglobin; 2020 Mar; 44(2):109-112. PubMed ID: 32370567
    [Abstract] [Full Text] [Related]

  • 4. Compound Heterozygote of Hb S (HBB: c.20A>T)/Hb Westdale (HBB: c.380_396delTGCAGGCTGCCTATCAG): Report of Four Cases from Odisha State, India.
    Dehury S, Meher S, Patel S, Das K, Jana A, Bhattacharya S, Sahoo S, Sarkar B, Mohanty PK.
    Hemoglobin; 2019 Mar; 43(2):132-136. PubMed ID: 31190580
    [Abstract] [Full Text] [Related]

  • 5. Hb S/β+-thalassemia due to Hb sickle and a novel deletion of DNase I hypersensitive sites HS3 and HS4 of the β locus control region.
    Amid A, Cheong M, Eng B, Hanna M, Hohenadel BA, Nakamura LM, Walker L, Odame I, Kirby-Allen M, Waye JS.
    Haematologica; 2015 May; 100(5):e166-8. PubMed ID: 25682598
    [No Abstract] [Full Text] [Related]

  • 6. Prenatal molecular diagnosis of β-thalassemia and sickle cell anemia in the Syrian population.
    Murad H, Moassas F, Jarjour R, Mukhalalaty Y, Al-Achkar W.
    Hemoglobin; 2014 May; 38(6):390-3. PubMed ID: 25405916
    [Abstract] [Full Text] [Related]

  • 7. Profiling of 35 Cases of Hb S/Hb E (HBB: c.20A>T/HBB: c.79G>a), Disease and Association with α-Thalassemia and β-Globin Gene Cluster Haplotypes from Odisha, India.
    Dehury S, Mohanty PK, Patel S, Meher S, Das K, Purohit P, Sahoo S, Ratha J.
    Hemoglobin; 2021 Nov; 45(6):380-386. PubMed ID: 35243949
    [Abstract] [Full Text] [Related]

  • 8. Compound Heterozygosity of β-Thalassemia and the Sickle Cell Hemoglobin in Various Populations of Chhattisgarh State, India.
    Jha AN, Mishra H, Verma HK, Pandey I, Lakkakula BVKS.
    Hemoglobin; 2018 Mar; 42(2):84-90. PubMed ID: 30200838
    [Abstract] [Full Text] [Related]

  • 9. 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]

  • 10. First Detection of a Splice Acceptor Site β-Thalassemia Mutation: IVS-I-130 (HBB: c.93-1G > C) in a Chinese Patient.
    He S, Zhang Q, Zheng C, Wei Y, Tang Y, Chen Q, Chen S.
    Hemoglobin; 2015 Feb 18; 39(4):290-1. PubMed ID: 26182339
    [Abstract] [Full Text] [Related]

  • 11. IVS-II-16 (G>C) (HBB: c.315+16G>C) or IVS-II-666 (C>T) (HBB: c.316-185C>T) Mutations Trigger an Hb S (HBB: c.20A>T)/β+-Thalassemia Phenotype in an Hb S Trait Patient.
    Uçucu S, Karabıyık T, Azik FM.
    Hemoglobin; 2021 Jul 18; 45(4):225-227. PubMed ID: 34396882
    [Abstract] [Full Text] [Related]

  • 12. 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 Jul 18; 38(4):292-4. PubMed ID: 24986053
    [Abstract] [Full Text] [Related]

  • 13. Hb Rush (HBB: c.304G>C): A Rare Variant Hemoglobin Mimicking the Hb S (HBB: c.20A>T) Variant on High Performance Liquid Chromatography.
    Mashon RS, Das R, Dhawan R, Kakkar N, Dhar T.
    Hemoglobin; 2020 Jan 18; 44(1):64-66. PubMed ID: 32124638
    [Abstract] [Full Text] [Related]

  • 14. 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]

  • 15. THE Hb S/beta+ -thalassemia phenotype demonstrates that the IVS-I (-2) (A>C) mutation is a mild beta-thalassemia allele.
    Schmugge M, Waye JS, Basran RK, Zurbriggen K, Frischknecht H.
    Hemoglobin; 2008 Nov 18; 32(3):303-7. PubMed ID: 18473247
    [Abstract] [Full Text] [Related]

  • 16. Silent β-thalassemia mutations at -101 (C>T) and -71 (C>T) and their coinheritance with the sickle cell mutation in Bahrain.
    Al Moamen NJ, Mahdi F, Salman E, Ahmed T, Abbas R, Al Arrayed S, Sanad H, Ahmed AA.
    Hemoglobin; 2013 Nov 18; 37(4):369-77. PubMed ID: 23586372
    [Abstract] [Full Text] [Related]

  • 17. 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 Nov 18; 39(4):292-5. PubMed ID: 26029792
    [Abstract] [Full Text] [Related]

  • 18. Genetic Background of β-Thalassemia in Northeast Algeria with Assessment of the Thalassemia Severity Score and Description of a new β0-Thalassemia Frameshift Mutation (HBB: c.374dup; p.Pro126Thrfs*15).
    Abdaoui W, Benouareth DE, Djenouni A, Renoux C, Grifi F, Gouri A, Athamnia F, Benalioua M, Joly P.
    Hemoglobin; 2019 Nov 18; 43(4-5):223-228. PubMed ID: 31603010
    [Abstract] [Full Text] [Related]

  • 19. Sickle cell/β0-thalassemia associated with the 1393 bp deletion can be associated with a severe phenotype.
    Daniel Y, Hill K, Inusa B, Thein SL, Howard J.
    Hemoglobin; 2011 Nov 18; 35(4):406-10. PubMed ID: 21797706
    [Abstract] [Full Text] [Related]

  • 20. 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]

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