Hemoglobin, Volume 38, Issue 1 (2014)

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Hemoglobin, Volume 38, Issue 1 (2014)

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Original Article

Article
Hemoglobin Analyses in The Netherlands Reveal More Than 80 Different Variants Including Six Novel Ones
Rob van Zwieten, Martijn Veldthuis, Barend Delzenne, Jeffrey Berghuis, Joke Groen, Fatima Ait Ichou, Els Clifford, Cornelis L. Harteveld & An K. Stroobants
Pages: 1-7
Published online: 07 Nov 2013
AbstractforHemoglobin Analyses in The Netherlands Reveal More Than 80 Different Variants Including Six Novel Ones | Full Text | References | PDF (157.8 KB) | Supplemental
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Research Article

Article
Hb Grand Junction (HBB: c.348_349delinsG; p.His117IlefsX42): A New Hyperunstable Hemoglobin Variant
Michael W. Kent, Jennifer L. Oliveira, James D. Hoyer, Kenneth C. Swanson, Michelle L. Kluge, D. Brian Dawson, Xiayuan Liang, Tyler J. Winkler, Charles W. Breaux Jr., Rachel LaCount & Christopher C. Silliman
Pages: 8-12
Published online: 16 Jan 2014
AbstractforHb Grand Junction (HBB: c.348_349delinsG; p.His117IlefsX42): A New Hyperunstable Hemoglobin Variant | Full Text | References | PDF (424.5 KB)
  • 174 Views
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Article
Molecular and Cellular Analysis of a Novel HBA2 Mutation (HBA2: c.94A>G) Shows Activation of a Cryptic Splice Site and Generation of a Premature Termination Codon
Talal Qadah, Jill Finlayson, Philippe Joly & Reza Ghassemifar
Pages: 13-18
Published online: 25 Nov 2013
AbstractforMolecular and Cellular Analysis of a Novel HBA2 Mutation (HBA2: c.94A>G) Shows Activation of a Cryptic Splice Site and Generation of a Premature Termination Codon | Full Text | References | PDF (1.1 MB)
  • 173 Views
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Article
The Diminishing Trend of β-Thalassemia in Southern Iran From 1997 to 2011: The Impact of Preventive Strategies
Hassan Joulaei, Mohammad Shahbazi, Bahman Nazemzadegan, Mohsen Rastgar, Maryam Hadibarhaghtalab, Mohammadreza Heydari, Fariborz Ghaffarpasand & Nazila Rahimi
Pages: 19-23
Published online: 25 Nov 2013
AbstractforThe Diminishing Trend of β-Thalassemia in Southern Iran From 1997 to 2011: The Impact of Preventive Strategies | Full Text | References | PDF (472.1 KB)
  • 117 Views
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Article
Masking of a β-Thalassemia Determinant by a Novel δ-Globin Gene Defect [Hb A2-Saurashtra or δ100(G2)Pro→Ser; HBD: c.301C>T] in Cis
Stacy Colaco, Amee Trivedi, Roshan B. Colah, K. Ghosh & Anita H. Nadkarni
Pages: 24-27
Published online: 07 Nov 2013
AbstractforMasking of a β-Thalassemia Determinant by a Novel δ-Globin Gene Defect [Hb A2-Saurashtra or δ100(G2)Pro→Ser; HBD: c.301C>T] in Cis | Full Text | References | PDF (268.1 KB)
  • 186 Views
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Article
The Risk of Potential Thromboembolic, Renal and Cardiac Complications of Sickle Cell Trait
Matthew D. Bucknor, Jeanna S. Goo & Michael L. Coppolino
Pages: 28-32
Published online: 07 Oct 2013
AbstractforThe Risk of Potential Thromboembolic, Renal and Cardiac Complications of Sickle Cell Trait | Full Text | References | PDF (145.4 KB)
  • 398 Views
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Article
Distinctive Mutation Spectrum of the HBB Gene in an Urban Eastern Indian Population
Subhransu Sekhar Sahoo, Sebaranjan Biswal & Manjusha Dixit
Pages: 33-38
Published online: 07 Oct 2013
AbstractforDistinctive Mutation Spectrum of the HBB Gene in an Urban Eastern Indian Population | Full Text | References | PDF (216.5 KB)
  • 503 Views
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Article
Detection of Nine Mediterranean β-Thalassemia Mutations in Palestinians Using Three Restriction Enzyme Digest Panels: A Reliable Method for Developing Countries
N. Scott Reading, Mahmoud M. Sirdah, Issa S. Tarazi & Josef T. Prchal
Pages: 39-43
Published online: 21 Oct 2013
AbstractforDetection of Nine Mediterranean β-Thalassemia Mutations in Palestinians Using Three Restriction Enzyme Digest Panels: A Reliable Method for Developing Countries | Full Text | References | PDF (295.3 KB)
  • 207 Views
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Article
Optimizing the Dose of Hydroxyurea Therapy for Patients with β-Thalassemia Intermedia (Hb E-β-thalassemia): A Single Center Study from Eastern India
Vinaykumar V. Bohara, Sudeshna Ray, Prantar Chakrabarti, Siddhartha Sankar Ray, Uttam Kumar Nath & Utpal Chaudhuri
Pages: 44-48
Published online: 21 Oct 2013
AbstractforOptimizing the Dose of Hydroxyurea Therapy for Patients with β-Thalassemia Intermedia (Hb E-β-thalassemia): A Single Center Study from Eastern India | Full Text | References | PDF (152.3 KB)
  • 175 Views
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Article
A Generic, Flexible Protocol for Preimplantation Human Leukocyte Antigen Typing Alone or in Combination with a Monogenic Disease, for Rapid Case Work-up and Application
Georgia Kakourou, Aspasia Destouni, Christina Vrettou, Jan Traeger-Synodinos & Emmanuel Kanavakis
Pages: 49-55
Published online: 16 Oct 2013
AbstractforA Generic, Flexible Protocol for Preimplantation Human Leukocyte Antigen Typing Alone or in Combination with a Monogenic Disease, for Rapid Case Work-up and Application | Full Text | References | PDF (161 KB)
  • 199 Views
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Article
Half of the Emirati Population Has Abnormal Red Cell Parameters: Challenges for Standards and Screening Guidelines
Bayan Al-Dabbagh, Saad Shawqi, Javed Yasin, Awad Al Essa, Nico Nagelkerke & Srdjan Denic
Pages: 56-59
Published online: 08 Nov 2013
AbstractforHalf of the Emirati Population Has Abnormal Red Cell Parameters: Challenges for Standards and Screening Guidelines | Full Text | References | PDF (214.1 KB)
  • 133 Views
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Short Communications

Article
Detection of a Novel βδ-Globin Fusion Gene, Anti-Lepore Hb CHORI (βthrough IVS-I-57/δfrom IVS-I-101), by Multiplex Ligation-Dependent Probe Amplification
Jialing Cui, Mahin Azimi & Carolyn C. Hoppe
Pages: 60-63
Published online: 08 Oct 2013
AbstractforDetection of a Novel βδ-Globin Fusion Gene, Anti-Lepore Hb CHORI (βthrough IVS-I-57/δfrom IVS-I-101), by Multiplex Ligation-Dependent Probe Amplification | Full Text | References | PDF (1 MB)
  • 103 Views
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Research Article

Article
Description of the Phenotypes of 63 Heterozygous, Homozygous and Compound Heterozygous Patients Carrying the Hb Groene Hart [α119(H2)Pro→Ser; HBA1: c.358C>T] Variant
Philippe Joly, Philippe Lacan, Caroline Garcia & Alain Francina
Pages: 64-66
Published online: 10 Oct 2013
AbstractforDescription of the Phenotypes of 63 Heterozygous, Homozygous and Compound Heterozygous Patients Carrying the Hb Groene Hart [α119(H2)Pro→Ser; HBA1: c.358C>T] Variant | Full Text | References | PDF (131 KB)
  • 154 Views
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Article
Two Novel Mutations (HBG1: c.-250C>T and HBG2: c.-250C>T) Associated With Hereditary Persistence of Fetal Hemoglobin
Sarmad Toma, María Tenorio, Matthew Oakley, Swee Lay Thein & Barnaby E. Clark
Pages: 67-69
Published online: 21 Oct 2013
AbstractforTwo Novel Mutations (HBG1: c.-250C>T and HBG2: c.-250C>T) Associated With Hereditary Persistence of Fetal Hemoglobin | Full Text | References | PDF (199.9 KB)
  • 245 Views
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Article
Coexistence of Two β-Globin Gene Deletions in a Chinese Girl with β-Thalassemia Minor
Ge Huang, Ping Li, Yun-Xiong Li & Lian-Zhen Ye
Pages: 70-72
Published online: 07 Nov 2013
AbstractforCoexistence of Two β-Globin Gene Deletions in a Chinese Girl with β-Thalassemia Minor | Full Text | References | PDF (743.7 KB)
  • 160 Views
  • 1 CrossRef citations
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Article
Newborn Screening for Hb H Disease by Determination of Hb Bart’s Using the Sebia Capillary Electrophoresis System in Southern China
Can Liao, Jian-Ying Zhou, Xing-Mei Xie, Hai-Shen Tang, Ru Li & Dong-Zhi Li
Pages: 73-75
Published online: 14 Nov 2013
AbstractforNewborn Screening for Hb H Disease by Determination of Hb Bart’s Using the Sebia Capillary Electrophoresis System in Southern China | Full Text | References | PDF (122.4 KB)
  • 215 Views
  • 7 CrossRef citations
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Article
The Hb H Disease Genotypes in Southern China
Jianpei Fang, Luming Chen, Ruiping Zeng, Qiuhong Tian, Weiying Jiang, Hongyi Li, Zheng Chen, Chuanshu Du & Suqin Chen
Pages: 76-78
Published online: 21 Nov 2013
AbstractforThe Hb H Disease Genotypes in Southern China | Full Text | References | PDF (133.4 KB)
  • 262 Views
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