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Hemoglobin
international journal for hemoglobin research
Volume 13, 1989 - Issue 1
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Original Article

HB Monroe or α2β230(B12)ARG→THR, a Variant Associated with β-Thalassemia due to a G→C Substitution Adjacent to the Donor Splice Site of the First Intron

J. M. Gonzalez-Redondo Department of Cell and Molecular Biology Laboratory of Protein Chemistry, Medical College of Georgia Augusta, GA, 30912-2100, USA
,
T. A. Stoming Department of Cell and Molecular Biology Laboratory of Protein Chemistry, Medical College of Georgia Augusta, GA, 30912-2100, USA
,
F. Kutlar Department of Cell and Molecular Biology Laboratory of Protein Chemistry, Medical College of Georgia Augusta, GA, 30912-2100, USA
,
A. Kutlar Department of Cell and Molecular Biology Laboratory of Protein Chemistry, Medical College of Georgia Augusta, GA, 30912-2100, USA
,
H. Hu Department of Cell and Molecular Biology Laboratory of Protein Chemistry, Medical College of Georgia Augusta, GA, 30912-2100, USA
,
J. B. Wilson Department of Cell and Molecular Biology Laboratory of Protein Chemistry, Medical College of Georgia Augusta, GA, 30912-2100, USA
&
T. H. J. Huisman Department of Cell and Molecular Biology Laboratory of Protein Chemistry, Medical College of Georgia Augusta, GA, 30912-2100, USA
 show all
Pages 67-74 | Received 05 Apr 1988, Accepted 14 Jun 1988, Published online: 07 Jul 2009

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Suha M. Hassan, Nishat Hamza, Fatma Jaffer Al-Lawatiya, Ali Jaffer Mohammed, Cornelis L. Harteveld, Anna Rajab & Piero C. Giordano. (2010) Extended Molecular Spectrum of β- and α-Thalassemia in Oman. Hemoglobin 34:2, pages 127-134.
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Amina Bibi, Taieb Messaoud & Slaheddine Fattoum. (2006) Haplotypes Linked to Three Rare β-Thalassemia Mutations, Originally Reported in Tunisia. Hemoglobin 30:2, pages 175-181.
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Slaheddine Fattoum, Taeib Messaoud & Amina Bibi. (2004) Molecular Basis of β‐Thalassemia in the Population of Tunisia. Hemoglobin 28:3, pages 177-187.
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Ghazi O. Tadmouri & A. Nazlı Başak. (2001) β-THALASSEMIA IN TURKEY: A REVIEW OF THE CLINICAL, EPIDEMIOLOGICAL, MOLECULAR, AND EVOLUTIONARY ASPECTS. Hemoglobin 25:2, pages 227-239.
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Georgi D. Efremov. (2001) FORTY-FOUR YEARS (1955–1999) DEVOTED TO HEMOGLOBIN RESEARCH: TITUS H. J. HUISMAN (1923–1999). Hemoglobin 25:2, pages 125-168.
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T. H. J. Huisman & M. F. H. Carver. (1998) The β-and -Thalassemia Repository (Ninth Edition; Part I). Hemoglobin 22:2, pages 169-195.
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I. Sweeting, B. E. Serjeant, G. R. Serjeant, A. E. Kulozik & B. Vetter. (1998) Short Communication:HB S-HB Monroe; a Sickle Cell-β-Thalassemia Syndrome. Hemoglobin 22:2, pages 153-156.
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W. Li, Y. Hattori, Y. Ohba, N. Okayama, W. S. Lin, G. F. Long, Y. Yamashiro, Ku. Yamamoto & Ki. Yamamoto. (1998) Another Example of the β-Thalassemia Mutation, IVS-I (—2) or Codon 30 (A→G), Found in a Chinese Family. Hemoglobin 22:4, pages 377-381.
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J. Traeger-Synodinos, E. Maragoudaki, C. Vrettou, E. Kanavakis & C. Kattamis. (1998) Rare β-Thalassemia Alleles In the Greek and Greek Cypriot Populations. Hemoglobin 22:1, pages 89-94.
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J. S. Waye, B. Eng, M. Patterson, D. H. K. Chui & B. J. Fernandes. (1998) Novel β-Thalassemia Mutation In Patients of Jewish Descent: [β30(B12)ARGGLY OR IVS-I (-2) (AG)]. Hemoglobin 22:1, pages 83-85.
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M. F. H. Carver & T. H. J. Huisman. (1997) International Hemoglobin Information Center Variant List. Hemoglobin 21:6, pages 505-506.
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. (1996) Variants of the Alpha Chain. Hemoglobin 20:3, pages 215-312.
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E. Baysal & M. F. H. Carver. (1995) The β- and δ-Thalassemia Repository (Eighth Edition). Hemoglobin 19:3-4, pages 213-236.
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D. Plaseska, S. Panovska-Popovska, G. D. Efremov & M. Lazarevski. (1994) HB F-Macedonia-II [Gγ104(G6)LYS→ASN]: A New γ chain variant. Hemoglobin 18:6, pages 373-382.
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. (1994) International Hemoglobin Information Center. Hemoglobin 18:2, pages 77-161.
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L. Jankovic, D. Plaseska, G. D. Efremov, P. Tchaicarova & G. H. Petkov. (1994) Two Rare Mutations [CD 30 (G->C) and CDs 36/37 (−T)] in a Turkish Thalassemia Major Patient from Bulgaria. Hemoglobin 18:4-5, pages 359-364.
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A. N. Başak, A. Özer, B. Kirdar & N. Akar. (1993) A Novel 13 BP Deletion in the 3′UTR of the β-Globin Gene Causes β-Thalassemia in a Turkish Patient. Hemoglobin 17:6, pages 551-555.
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A. N. Fedorov, F. Yu. Nasyrov, E. A. Smirnova, T. N. Bocharova & S. A. Limborska. (1993) IVS-1-1 (G→C) in Combination with -42 (C→G) in the Promoter Region of the β-Globin Gene in Patients from Tajikistan. Hemoglobin 17:3, pages 275-278.
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. (1993) Variants of the Alpea Chain. Hemoglobin 17:2, pages 89-177.
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T. H. J. Huisman. (1993) The β- and δ-Thalassemia Repository (Seventh Edition). Hemoglobin 17:5, pages 479-499.
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. (1992) Variants of the Alpha Chain. Hemoglobin 16:3, pages 127-213.
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M. A. Cürük, A. Kutlar & T. H. J. Huisman. (1992) HB Shelby [α2β2131(H9)GLN→LYS]-β°-Thalassemia [Codon 15 (TGG→TGA)] Identified by DNA Sequencing. Hemoglobin 16:5, pages 417-419.
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T. H. J. Huisman. (1992) The β- and δ-Thalassemia Repository. Hemoglobin 16:4, pages 237-258.
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S. Fattoum, F. Guemira, C. Öner, R. Öner, H-W. Li, F. Kutlar & T. H.J. Huisman. (1991) β-Thalassemia, HB S-β-Thalassemia and Sickle Cell Anemia Among Tunisians. Hemoglobin 15:1-2, pages 11-21.
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. (1991) International hemoglobin information center: Variants of the alpha chain. Hemoglobin 15:3, pages 139-217.
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M. M. Keeling, S. J. Bertolone, E. Baysal, Y-C. Gu, B. Cepreganova, J. B. Wilson & T. H. J. Huisman. (1991) HB Mizuho or α2β268(E12)Leu→pro in a Caucasian Boy with high levels of HB F; Identification by Sequencing of Amplified DNA. Hemoglobin 15:6, pages 477-485.
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R. B. Gupta, R. S. Tiwary, P. L. Pande, F. Kutlar, C. Öner, R. Öner & T. H. J. Huisman. (1991) Hemoglobinopathies Among the Gond Tribal Groups of Central India; Interaction of α- and β-Thalassemia with β Chain Variants. Hemoglobin 15:5, pages 441-458.
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. (1990) β-Thalassemia Repository. Hemoglobin 14:6, pages 661-675.
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. (1990) International Hemoglobin Information Center. Hemoglobin 14:3, pages 249-325.
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T. H. J. Huisman. (1989) β-Thalassehia Repository. Hemoglobin 13:7-8, pages 775-787.
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. (1989) Variants of the Alpha Chain. Hemoglobin 13:3, pages 223-297.
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Articles from other publishers (6)

Abdullah Tuli & Ebru Dündar Yenilmez. 2018. Thalassemia and Other Hemolytic Anemias. Thalassemia and Other Hemolytic Anemias.
Mahdi Muhammad Moosa, Mustak Ibn Ayub, AMA Emran Bashar, Golam Sarwardi, Waqar Khan, Haseena Khan & Sabina Yeasmin. (2011) Combination of two rare mutations causes β-thalassaemia in a Bangladeshi patient. Genetics and Molecular Biology 34:3, pages 406-409.
Crossref
D.J. Weatherall & J.B. Clegg. 2001. The Thalassaemia Syndromes. The Thalassaemia Syndromes 733 821 .
Carol J. Gallione, Daniel J. Klaus, Eric Y. Yeh, Timothy T. Stenzel, Yan Xue, Kara B. Anthony, Kimberly A. McAllister, Melanie A. Baldwin, Jonathan N. Berg, Andreas Lux, Joshua D. Smith, Calvin P. H. Vary, William J. Craigen, CJJ Westermann, Mary L. Warner, York E. Miller, C. Eugene Jackson, Alan E. Guttmacher & Douglas A. Marchuk. (1998) Mutation and expression analysis of the endoglin gene in hereditary hemorrhagic telangiectasia reveals null alleles. Human Mutation 11:4, pages 286-294.
Crossref
G. Loudianos, S. Murru, M. S. Ristaldi, P. Cossu, G. Pilia, S. Porcu, G. V. Sciarratta, M. I. Parodi, A. Cao & M. Pirastu. (1992) A novel δ-thalassemia mutation A G→C substitution at codon 30 of the δ-globin gene in a person of Southern Italian origin. Human Mutation 1:2, pages 169-171.
Crossref
Yôichi Iida. (1990) Quantification analysis of 5′-splice signal sequences in mRNA precursors. Mutations in 5′-splice signal sequence of human β-globin gene and β-thalassemia. Journal of Theoretical Biology 145:4, pages 523-533.
Crossref

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