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331 related items for PubMed ID: 29651865

  • 1. Compound Heterozygosity for Hb Alperton (HBB: c.407C>T) and IVS-I-5 (G>C) (HBB: c.92+5G>C) Mutations Presenting as a Moderate Anemia in an Indian Family.
    Godbole KG, Ramachandran A, Karkamkar AS, Dalal AB.
    Hemoglobin; 2018 Mar; 42(2):141-142. PubMed ID: 29651865
    [Abstract] [Full Text] [Related]

  • 2. Hb Midnapore [β53(D4)Ala→Val; HBB: c.161C>T]: A Novel Hemoglobin Variant with a Structural Abnormality Associated with IVS-I-5 (G>C) (HBB: c.92+5G>C) Found in a Bengali Indian Family.
    Panja A, Chowdhury P, Basu A.
    Hemoglobin; 2016 Sep; 40(5):300-303. PubMed ID: 27690257
    [Abstract] [Full Text] [Related]

  • 3. 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]

  • 4. A new δ chain variant, Hb A2-Tunis [δ46(CD5)Gly → Glu; HBD: c.140G>A], observed in a Tunisian family in association with a compound heterozygosity for Hb C [β6(A3)Glu → Lys; HBB: c.19G>A] β(0)-thalassemia [IVS-I-1 (β143, G>A); HBB: c.92+1G>A].
    Moumni I, Zorai A, Mahjoub S, Mosbahi I, Chaouechi D, Benromdhane N, Abbes S.
    Hemoglobin; 2014 Mar; 38(2):88-90. PubMed ID: 24471655
    [Abstract] [Full Text] [Related]

  • 5. A Case Report of Compound Heterozygosity for β0/β+-Thalassemia Resulting from under Diagnosed β-Thalassemia Found in a Hb A'2 Sample.
    Intasai N, Phasit A, Panyasai S, Pornprasert S.
    Hemoglobin; 2019 Jan; 43(1):63-65. PubMed ID: 31037981
    [Abstract] [Full Text] [Related]

  • 6. 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
    [Abstract] [Full Text] [Related]

  • 7. 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]

  • 8. 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 Feb 18; 40(2):75-84. PubMed ID: 26635043
    [Abstract] [Full Text] [Related]

  • 9. 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]

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

  • 11. Association between Different Polymorphic Markers and β-Thalassemia Intermedia in Central Iran.
    Sajadpour Z, Amini-Farsani Z, Motovali-Bashi M, Yadollahi M, Khosravi-Farsani N.
    Hemoglobin; 2020 Jan 18; 44(1):27-30. PubMed ID: 31899996
    [Abstract] [Full Text] [Related]

  • 12. 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 18; 43(1):66-68. PubMed ID: 30843739
    [Abstract] [Full Text] [Related]

  • 13. Description of a rare β-globin gene mutation, IVS-II-848 (C>A) (HBB: c.316-3C>A) in association with IVS-I-1 (G>A) (HBB: c.92 + 1G>A), observed in a Syrian family: a case report.
    Shoujaa A, Mukhalalaty Y, Murad H, Al-Quobaili F.
    Hemoglobin; 2019 Jan 18; 43(4-5):283-285. PubMed ID: 31718331
    [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. 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 Jul 18; 40(1):20-4. PubMed ID: 26372288
    [Abstract] [Full Text] [Related]

  • 16. 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 18; 79(5):422-8. PubMed ID: 17916081
    [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. 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]

  • 19. Multiplex Minisequencing of the HBB Gene: A Rapid Strategy to Confirm the Most Frequent β-Thalassemia Mutations in the Tunisian Population.
    Ben Charfeddine I, Ben Lazreg T, M'sakni A, Amara A, Mlika A, Chaïeb A, Hlel K, Zouari N, Zbidi F, Bouguila J, Soyah N, Ayedi A, Ben Hamouda H, Abroug S, Boughamoura L, Saad A, Gribaa M.
    Hemoglobin; 2015 Jan 18; 39(4):251-5. PubMed ID: 26016902
    [Abstract] [Full Text] [Related]

  • 20. 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]

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