Hemoglobin Journal

Overview
Identity
View All

publication venue for

A NOVEL AND SIMPLE SCREENING-TEST FOR ALPHA-THALASSEMIA-1 1987
Newborn Screening for β-Thalassemia Identifies a Complex Genotype Involving a Novel β-Globin Gene Mutation ( HBB :c.336dup). 48:113-115. 2024
Splice Acceptor Mutation [ HBB :c.93-2A > T] in a Patient with Hb S/β ⁰ -Thalassemia. 48:116-117. 2024
β ⁰ -Thalassemia Caused by a Novel Nonsense Mutation [ HBB: c.199A > T]. 48:69-70. 2024
Novel High Oxygen Affinity Hemoglobin Variant in a Patient with Polycythemia: Hb Kennisis [β85(F1)Phe→Leu (TTT>TTG); HBB: c.258T>G]. 44:10-12. 2020
A sickle cell disease patient with dural venous sinus thrombosis: a case report and literature review. 43:193-197. 2019
A Novel Human β-Globin Gene Variant [Hb London-Ontario,HBB: c.332T>G] is Associated with Transfusion-Dependent Anemia in a Patient with a Hemoglobin Electrophoresis Pattern Consistent with β-Thalassemia Trait. 43:129-131. 2019
Characterization of Two Novel Deletions Involving the 5′ Region of the β-Globin Gene. 41:239-242. 2017
α⁰-Thalassemia Due to a 90.7 kb Deletion (– –^NFLD). 41:218-219. 2017
Hb Presbyterian (HBB: c.327C>G) in a Nicaraguan Family. 41:50-52. 2017
Novel Mutation of the Translation Initiation Codon of the α1-Globin Gene (ATG>AAG orHBA1:c.2T>A). 40:369-370. 2016
Hb Grifton [α87(F8)His→Pro;HBA1: C.263A > C (orHBA2)] Causes Abnormal Pulse Oximetry Measurements. 40:257-259. 2016
Mild Microcytic Anemia in an Infant with a Compound Heterozygosity for Hb C (HBB: c.19G > A) and Hb Osu Christiansborg (HBB: c.157G > A). 40:208-209. 2016
Hereditary Persistence of Fetal Hemoglobin Caused by Single Nucleotide Promoter Mutations in Sickle Cell Trait and Hb SC Disease. 40:64-65. 2016
Optimal Manual Exchange Transfusion Protocol for Sickle Cell Disease: A Retrospective Comparison of Two Comprehensive Care Centers in the United Kingdom and Canada. 39:310-315. 2015
Sudanese (δβ)⁰-Thalassemia: Identification and Characterization of a Novel 9.6 kb Deletion. 39:368-370. 2015
Fanconi’s Anemia Effect or Sickle Cell Anemia Effect: That is the Question. 39:287-289. 2015
α⁺-Thalassemia Due to a Frameshift Mutation of theα2-Globin Gene [codons 55/56 (+T) orHBA2: c.168dup]. 39:209-210. 2015
The First Report of a Homozygous Codons 9/10 (+T) β-Thalassemia Mutation in a Turkish Patient. 39:66-68. 2015
Hb Youngstown [β101(G3)Glu → Ala;HBB: c.305A > C]: An Unstable Hemoglobin Variant Causing Severe Hemolytic Anemia. 38:381-384. 2014
Non-Thalassemic Phenotype Associated With the -83 (G > A) Mutation of theβ-Globin Gene Promoter (HBB: c.-133G > A). 38:447-448. 2014
Mild β⁺-Thalassemia Associated With Two Linked Sequence Variants: IVS-II-839 (T>C) and IVS-II-844 (C>A). 37:378-386. 2013
Normal Hb A₂β-Thalassemia Trait: Frameshift Mutation (HBB: c.187_251dup) inCiswith the Hb A_2’δ-Globin Gene Missense Mutation (HBD: c.49G>C). 37:201-204. 2013
Identification of the first mutation in a BRE motif of the β-globin gene and its inheritance with two other α-globin gene mutations in a Lebanese family.. 37:171-175. 2013
Compound Heterozygosity for Hb S [β6(A3)Glu→Val] and Hb Kenya (^Aγ81Leu-β86Ala) in a Ugandan Woman. 36:270-275. 2012
α⁺-Thalassemia Trait Caused by a Frameshift Mutation in Exon 2 of the α2-Globin Gene [HBA2 c.244delT]. 36:205-207. 2012
Hb A₂Hong Kong – A Novel δ-Globin Variant in a Chinese Family Masks the Diagnosis of β-Thalassemia Trait. 35:162-165. 2011
β⁺-Thalassemia Trait Due to a Novel Mutation in the β-Globin Gene Promoter: −26 (A>C) [HBB c.−76A>C]. 35:84-86. 2011
New and Known β-Thalassemia Determinants Masked by Known and New δ Gene Defects [Hb A₂-Ramallah or δ6(A3)Glu→Gln,GAG>>CAG]. 34:445-450. 2010
Characterization of Three Novel δ Chain Hemoglobin Variants and Two δ-Thalassemia Alleles. 34:374-382. 2010
Codon 24 (TAT>TAG) and Codon 32 (ATG>AGG) (Hb Rotterdam): Two Novel α2 Gene Mutations Associated with Mild α-Thalassemia Found in the Same Family After Newborn Screening. 34:354-365. 2010
Molecular Characterization of a Novel 55.1 kb^Gγ(^Aγδβ)⁰-thalassemia Deletion in Two Canadian Families. 33:422-427. 2009
α-Thalassemia Caused by Two Novel Splice Mutations of the α2-Globin Gene: IVS-I-1 (G>A and G>T). 33:519-522. 2009
Hb North York [β117(G19)His→Asp]: A New β Chain Hemoglobin Variant. 33:51-53. 2009
Three New β-Thalassemia Mutations with Varying Degrees of Severity. 33:220-225. 2009
α⁺-Thalassemia Trait Caused by a Nonsense Mutation in the α2-Globin Gene: Codon 54 (CAG>TAG). 33:72-74. 2009
Frameshift Mutation in the α2-Globin Gene Causing α⁺-Thalassemia: Codon 49 (−GC). 32:315-317. 2008
THE Hb S/β⁺-Thalassemia Phenotype Demonstrates that the IVS-I (−2) (A>C) Mutation is a Mild β-Thalassemia Allele. 32:303-307. 2008
High Oxygen Affinity Hemoglobin Variant in a Canadian Family: Hb Bunbury [β94(FG1)Asp→Asn,GAC→AAC]. 31:101-103. 2007
Three New β-Globin Gene Promoter Mutations Identified Through Newborn Screening. 31:129-134. 2007
Two New α-Thalassemia Frameshift Mutations. 31:135-139. 2007
In Memoriam. 30:1-2. 2006
Three New α-Thalassemia Point Mutations Ascertained Through Newborn Screening. 30:149-153. 2006
Characterization of a Rare Single α-Globin Gene Deletion in a Chinese Woman with Hb H Disease. 29:297-299. 2005
High Hb A₂β-Thalassemia Due to a 468 bp Deletion in a Patient with Hb S/β-Thalassemia. 29:293-295. 2005
Identification of a New δ Chain Hemoglobin Variant in a β-Thalassemia Carrier: Hb A₂-MUMC [δ13(A10)Ala → Asp]. 29:285-287. 2005
Hb Hope [β136(H14)Gly→Asp (GGT→GAT)]: Interactions with Hb S [β6(A3)Glu→Val (GAG→GTG)], Other Variant Hemoglobins and Thalassemia. 28:277-285. 2004
Hb Castilla [β32(B14)Leu → Arg] Caused by a De Novo Mutation. 27:253-256. 2003
Identification of a New β-Thalassemia Nonsense Mutation [Codon 59 (AAG→TAG)]. 27:201-203. 2003
Identification of a new hemoglobin variant: Hb St. Joseph's [β77(EF1)His→Leu]. 27:181-183. 2003
DOMINANT β-THALASSEMIA DUE TO A NEWLY IDENTIFIED FRAMESHIFT MUTATION IN EXON 3 (CODON 113, GTG → TG). 26:83-86. 2002
IDENTIFICATION OF TWO NEW β-THALASSEMIA SPLICE MUTATIONS: IVS-I-1 (G → C) AND IVS-I (−2) (A → C). 26:87-89. 2002
DATABASES OF HUMAN HEMOGLOBIN VARIANTS AND OTHER RESOURCES AT THE GLOBIN GENE SERVER. 25:183-193. 2001
IDENTIFICATION OF TWO NEW α-THALASSEMIA MUTATIONS IN EXON 2 OF THE α1-GLOBIN GENE. 25:391-396. 2001
NOVEL β-THALASSEMIA MUTATION IN A β-THALASSEMIA INTERMEDIA PATIENT [POLY A (AATAAA →GATAAA)]. 25:103-105. 2001
Homozygous HB Sallanches [α104(G11)CYS→TYR] in a Pakistani Child with HB H Disease. 24:355-357. 2000
Second Report of Hb Toulon [α77(EF6)Pro→His] in a Canadian Family of Italian Descent. 24:359-360. 2000
Compound Heterozygosity for Hb S and Hb G-Copenhagen. 23:379-381. 1999
Spectrum of β-Thalassemia Mutations in Egypt. 23:255-261. 1999
Access to a Syllabus of Human Hemoglobin Variants (1996) Via the World Wide Web. 22:113-127. 1998
Detection of α2- and α1- Globin Gene Variants by a Modified Cycle Sequencing Method. 22:373-376. 1998
Novel β-Thalassemia Mutation In Patients of Jewish Descent: [β30(B12)ARGGLY OR IVS-I (-2) (AG)]. 22:83-85. 1998
Novel Mutation of the α2-Globin Gene Initiation Codon (Atg→A-G) in a Vietnamese Girl with Hb H Disease. 21:469-472. 1997
Novel β°-Thalassemia Mutation in a Canadian Woman of British Descent (Codons 72/73, -Agtga, +T). 21:385-387. 1997
Identifican of A New High Oxygen Affinity Hemoglobin Variant: Hb Aurora [β139(H17)Asn→Tyr]. 19:335-341. 1995
De novoβ-globin gene mutation [β63(E7)HIS→TYR] giving rise to Hb M disease in a newfoundlander. 18:441-443. 1994
β-Thalassemia intermedia in a lebanese child due to homozygosity for the -88 (C→T) Mutation. 18:383-388. 1994
δβ-Thalassemia in an African-American: Identification of the deletion endpoints and PCR-Based diagnosis. 18:389-399. 1994
The Interaction of Anti 3. 7 Type Quadruplicated α-Globin Genes and Heterozygous β-Thalassemia. 13:125-135. 1989
Potential Application of a New Screening Test for α-Thalassemia-1 Carriers. 12:459-463. 1988
Some Rare Hemoglobin Variants with Altered Oxygen Affinities; Hb Linkoping [β36(C2)Pro→Thr], Hb Caribbean [β91(F7)Leu→Ar6], and Hb Sunnybrook [β 36(C2)Pro→Arg]. 12:137-148. 1988
Compound Heterozygosity for two Genotypes of α-Thalassemia-2 : Hematological, Biosynthetic and DNA Studies. 9:111-126. 1985
Hemoglobinopathies in Canada. 6:235-241. 1982
A Second Patient with Hemoglobin Alberta, a High-Oxygen-Affinity Variant Causing Erythrocytosis and Forming Asymmetric Tetramers. 2:557-559. 1978

has subject area

1103 Clinical Sciences (FoR)
Immunology (Science Metrix)