Hemoglobin, Volume 39, Issue 3 (2015)

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Hemoglobin, Volume 39, Issue 3 (2015)

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Original Article

Article
Description of Three New α Variants and Four New β Variants: Hb Montluel [α110(G17)Ala → Val; HBA1: c.332C > T], Hb Cap d’Agde [α131(H14)Ser → Cys; HBA2: c.395C > G] and Hb Corsica [α100(G7)Leu → Pro; HBA1: 302T > C]; Hb Nîmes [β104(G6)Arg → Gly; HBB: c.313A > G], Hb Saint Marcellin [β112(G14)Cys → Gly; HBB: c.337T > G], Hb Saint Chamond [β80(EF4)Asn → 0; HBB: c.241_243delAAC] and Hb Dompierre [β29(B11)Gly → Arg; HBB: c.88G > C]
Céline Renoux, Cécile Feray, Philippe Joly, Philippe Lacan & Alain Francina
Pages: 147-151
Published online: 23 Jun 2015
AbstractforDescription of Three New α Variants and Four New β Variants: Hb Montluel [α110(G17)Ala → Val; HBA1: c.332C > T], Hb Cap d’Agde [α131(H14)Ser → Cys; HBA2: c.395C > G] and Hb Corsica [α100(G7)Leu → Pro; HBA1: 302T > C]; Hb Nîmes [β104(G6)Arg → Gly; HBB: c.313A > G], Hb Saint Marcellin [β112(G14)Cys → Gly; HBB: c.337T > G], Hb Saint Chamond [β80(EF4)Asn → 0; HBB: c.241_243delAAC] and Hb Dompierre [β29(B11)Gly → Arg; HBB: c.88G > C] | Full Text | References | PDF (802.4 KB)
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Article
Hb Dartmouth (HBA2: c.200T>C): An α2-Globin Gene Associated with Hb H Disease in One Homozygous Patient
Samaneh Farashi, Negin Faramarzi Garous, Mehri Ashki, Shadi Vakili, Fatemah Zeinali, Hashem Imanian, Azita Azarkeivan & Hossein Najmabadi
Pages: 152-155
Published online: 15 May 2015
AbstractforHb Dartmouth (HBA2: c.200T>C): An α2-Globin Gene Associated with Hb H Disease in One Homozygous Patient | Full Text | References | PDF (127.7 KB)
  • 164 Views
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Article
Genetic Modifiers of Sickle Cell Disease: A Genotype-Phenotype Relationship Study in a Cohort of 82 Children on Mayotte Island
Mathias Muszlak, Serge Pissard, Catherine Badens, Abdourahim Chamouine, Olivier Maillard & Isabelle Thuret
Pages: 156-161
Published online: 25 Mar 2015
AbstractforGenetic Modifiers of Sickle Cell Disease: A Genotype-Phenotype Relationship Study in a Cohort of 82 Children on Mayotte Island | Full Text | References | PDF (140.6 KB)
  • 313 Views
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Article
Usability and Feasibility of an mHealth Intervention for Monitoring and Managing Pain Symptoms in Sickle Cell Disease: The Sickle Cell Disease Mobile Application to Record Symptoms via Technology (SMART)
Charles R. Jonassaint, Nirmish Shah, Jude Jonassaint & Laura De Castro
Pages: 162-168
Published online: 01 Apr 2015
AbstractforUsability and Feasibility of an mHealth Intervention for Monitoring and Managing Pain Symptoms in Sickle Cell Disease: The Sickle Cell Disease Mobile Application to Record Symptoms via Technology (SMART) | Full Text | References | PDF (434 KB)
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Article
Evaluation of Mental Health and Physical Pain in Patients with β-Thalassemia Major in Northern Greece
Efthymia Vlachaki, Nikolaos Neokleous, Dimitra Paspali, Evaggelia Vetsiou, Elias Onoufriadis, Nicolaos Sousos, Sofia Hissan, Sofia Vakalopoulou, Vasilia Garypidou & Panagiota Boura
Pages: 169-172
Published online: 15 May 2015
AbstractforEvaluation of Mental Health and Physical Pain in Patients with β-Thalassemia Major in Northern Greece | Full Text | References | PDF (145.3 KB)
  • 156 Views
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Article
Thalassemia Phenotypes and Genotypes in Taiwan: A Retrospective Study Based on Thalassemia Screening of Young Men for Military Conscription
Hsiao-Wei Lee, Shao-Min Han, Youngsen Yang, Tseng-Hsi Lin, Huey-En Tzeng, Kuang-Hsi Chang, Wen-Li Hwang & Chieh-Lin J. Teng
Pages: 173-177
Published online: 19 Jun 2015
AbstractforThalassemia Phenotypes and Genotypes in Taiwan: A Retrospective Study Based on Thalassemia Screening of Young Men for Military Conscription | Full Text | References | PDF (257.7 KB) | Supplemental
  • 210 Views
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Article
Molecular Basis of β-Thalassemia Intermedia in Erbil Province of Iraqi Kurdistan
Rawand P. Shamoon, Nasir A. S. Al-Allawi, Maria D. Cappellini, Elena Di Pierro, Valentina Brancaleoni & Francesca Granata
Pages: 178-183
Published online: 22 Apr 2015
AbstractforMolecular Basis of β-Thalassemia Intermedia in Erbil Province of Iraqi Kurdistan | Full Text | References | PDF (224.7 KB)
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Article
Compensation of CD55 Underexpression on Red Blood Cells of β-Thalassemia Major Patients
Jamil M. A. S. Obaid, Salma Y. Abo El-Nazar, Amal M. Ghanem, Abeer S. El-Hadidi & Basma H. M. Mersal
Pages: 184-189
Published online: 21 Apr 2015
AbstractforCompensation of CD55 Underexpression on Red Blood Cells of β-Thalassemia Major Patients | Full Text | References | PDF (299.6 KB)
  • 132 Views
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Article
Identification of Hb Constant Spring (HBA2: c.427T > C) by an Automated High Performance Liquid Chromatography Method
Raewadee Wisedpanichkij, Sumalee Jindadamrongwech & Punnee Butthep
Pages: 190-195
Published online: 27 May 2015
AbstractforIdentification of Hb Constant Spring (HBA2: c.427T > C) by an Automated High Performance Liquid Chromatography Method | Full Text | References | PDF (377.8 KB)
  • 210 Views
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Article
A 21 Nucleotide Duplication on the α1- and α2-Globin Genes Involves a Variety of Hypochromic Microcytic Anemias, From Mild to Hb H Disease
Samaneh Farashi, Negin Faramarzi Garous, Fatemeh Zeinali, Shadi Vakili, Mehri Ashki, Hashem Imanian, Hossein Najmabadi, Azita Azarkeivan & Ahmad Tamaddoni
Pages: 196-200
Published online: 15 May 2015
AbstractforA 21 Nucleotide Duplication on the α1- and α2-Globin Genes Involves a Variety of Hypochromic Microcytic Anemias, From Mild to Hb H Disease | Full Text | References | PDF (734.6 KB)
  • 137 Views
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Article
Interaction of an α-Globin Gene Triplication with β-Globin Gene Mutations in Iranian Patients with β-Thalassemia Intermedia
Samaneh Farashi, Nooshin Bayat, Negin Faramarzi Garous, Mehri Ashki, Mona Montajabi Niat, Shadi Vakili, Hashem Imanian, Sirous Zeinali, Hossein Najmabadi & Azita Azarkeivan
Pages: 201-206
Published online: 18 Jun 2015
AbstractforInteraction of an α-Globin Gene Triplication with β-Globin Gene Mutations in Iranian Patients with β-Thalassemia Intermedia | Full Text | References | PDF (408.8 KB)
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Short Communication

First Detection of a Splice Site β-Thalassemia Mutation, IVS-I-6 (T > C) (HBB: c.92 + 6T > C) in a Chinese Family
Biyan Chen, Peng Huang, Shang Yi, Qiuli Chen, Yanqing Tang, Qiang Zhang & Sheng He
Pages: 207-208
Published online: 09 Apr 2015
AbstractforFirst Detection of a Splice Site β-Thalassemia Mutation, IVS-I-6 (T > C) (HBB: c.92 + 6T > C) in a Chinese Family | Full Text | References | PDF (255.4 KB)
  • 171 Views
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α+-Thalassemia Due to a Frameshift Mutation of the α2-Globin Gene [codons 55/56 (+T) or HBA2: c.168dup]
John S. Waye, Barry Eng, Meredith Hanna, Betty-Ann Hohenadel, Lisa M. Nakamura & Lynda Walker
Pages: 209-210
Published online: 21 Apr 2015
Abstractforα+-Thalassemia Due to a Frameshift Mutation of the α2-Globin Gene [codons 55/56 (+T) or HBA2: c.168dup] | Full Text | References | PDF (290.6 KB)
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Detection of Hb Constant Spring (HBA2: c.427T>C) Heterozygotes in Combination with β-Thalassemia or Hb E Trait by Capillary Electrophoresis
Sakorn Pornprasert, Supansa Saoboontan & Manoo Punyamung
Pages: 211-215
Published online: 17 Apr 2015
AbstractforDetection of Hb Constant Spring (HBA2: c.427T>C) Heterozygotes in Combination with β-Thalassemia or Hb E Trait by Capillary Electrophoresis | Full Text | References | PDF (459.2 KB)
  • 257 Views
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Hb H Hydrops Fetalis Syndrome Caused by Association of the − −SEA Deletion and Hb Constant Spring (HBA2: c.427T > C) Mutation in a Chinese Family
Sheng He, Chenguang Zheng, Dahua Meng, Rongyu Chen, Qiang Zhang, Xiaoxian Tian & Shaoke Chen
Pages: 216-219
Published online: 21 Apr 2015
AbstractforHb H Hydrops Fetalis Syndrome Caused by Association of the − −SEA Deletion and Hb Constant Spring (HBA2: c.427T > C) Mutation in a Chinese Family | Full Text | References | PDF (603.2 KB)
  • 299 Views
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