Hemoglobins, Abnormal Concept

subject area of

• De novoβ-globin gene mutation [β63(E7)HIS→TYR] giving rise to Hb M disease in a newfoundlander  Journal Articles
• A New Case of the Unstable Haemoglobin Genova(α₂β₂28(β 10)Leu→Pro) in Canada: As a Result of Sporadic Mutation and Causing Heinz Body Haemolytic Anaemia  Journal Articles
• 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  Journal Articles
• A Novel Sickling Hemoglobinopathy  Journal Articles
• A Second Patient with Hemoglobin Alberta, a High-Oxygen-Affinity Variant Causing Erythrocytosis and Forming Asymmetric Tetramers  Journal Articles
• A sickle cell disease patient with dural venous sinus thrombosis: a case report and literature review  Journal Articles
• A study of the synthesis of the peptide chains of the unstable haemoglobin, haemoglobin Köln.  Journal Articles
• Abnormal Haem Binding and Globin SH Group Blockade in Unstable Haemoglobins  Journal Articles
• Access to a Syllabus of Human Hemoglobin Variants (1996) Via the World Wide Web  Journal Articles
• Adult hemoglobins are synthesized in erythroid colonies in vitro derived from murine circulating hemopoietic progenitor cells during embryonic development.  Journal Articles
• Clinical course and molecular characterization of a compound heterozygote for sickle hemoglobin and hemoglobin kenya  Journal Articles
• 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  Journal Articles
• Compound Heterozygosity for Hb S [β6(A3)Glu→Val] and Hb Kenya (^Aγ81Leu-β86Ala) in a Ugandan Woman  Journal Articles
• Compound Heterozygosity for Hb S and Hb G-Copenhagen  Journal Articles
• DNA diagnosis of Hb S and Hb Caribbean (α₂β₂⁹¹ Leu→Arg) in a Jamaican family  Journal Articles
• Defective Synthesis of an Unstable Haemoglobin: Haemoglobin Koln (β⁹⁸Val‐Met)  Journal Articles
• Detection of α2- and α1- Globin Gene Variants by a Modified Cycle Sequencing Method  Journal Articles
• Evidence for a mechanosensitive calcium influx into red cells  Journal Articles
• Haemoglobin D Los Angeles, D-β⁺-Thalassaemia, and D-β°- Thalassaemia  Journal Articles
• Haemoglobin Q-Thailand and hereditary spherocytosis in a Chinese family  Journal Articles
• Hb Adana (HBA2 or HBA1: c.179G > A) and alpha thalassemia: Genotype–phenotype correlation  Journal Articles
• Hb Castilla [β32(B14)Leu → Arg] Caused by a De Novo Mutation  Journal Articles
• Hb E/Hb Lepore_Hollandia in a family from Bangladesh  Journal Articles
• Hb Evora [ 2 35, Ser->Pro], a novel hemoglobin variant associated with an  -thalassemia phenotype  Journal Articles
• Hb FM-Fort Ripley: Confirmation of autosormal dominant inheritance and diagnosis by PCR and direct nucleotide sequencing  Journal Articles
• Hb Grifton [α87(F8)His→Pro;HBA1: C.263A > C (orHBA2)] Causes Abnormal Pulse Oximetry Measurements  Journal Articles
• Hb Hope [β136(H14)Gly→Asp (GGT→GAT)]: Interactions with Hb S [β6(A3)Glu→Val (GAG→GTG)], Other Variant Hemoglobins and Thalassemia  Journal Articles
• Hb J-Singa (α-78 Asn → Asp), A newly discovered hemoglobin variant with the same amino acid substitution as one of the two present in Hb J-Singapore (α-78 Asn → Asp, α-79 Ala → Gly)  Journal Articles
• Hb North York [β117(G19)His→Asp]: A New β Chain Hemoglobin Variant  Journal Articles
• Hb Presbyterian (HBB: c.327C>G) in a Nicaraguan Family  Journal Articles
• Hb Youngstown [β101(G3)Glu → Ala;HBB: c.305A > C]: An Unstable Hemoglobin Variant Causing Severe Hemolytic Anemia  Journal Articles
• Hemoglobin Bart's Disease in an Italian Boy  Journal Articles
• Hemoglobin E diseases: Hematological, analytical, and biosynthetic studies in homozygotes and double heterozygotes for α‐thalassemia  Journal Articles
• Hemoglobin Hamilton or α₂β₂11(a8)Val→Ile: A silent β‐chain variant detected by triton X‐100 acid‐urea polyacrylamide gel electrophoresis  Journal Articles
• Hemoglobin Kenya composed of α‐ and (^Aγβ)‐fusion‐globin chains, associated with hereditary persistence of fetal hemoglobin  Journal Articles
• Hemoglobin Q_India, α₆₄(E l3) Asp→His, and β- Thalassemiaina Canadian Family  Journal Articles
• Hemoglobin Titusville, a low oxygen affinity variant hemoglobin, in a family of Northern European background  Journal Articles
• Hemoglobin barts hydrops fetalis syndrome.  Journal Articles
• Hemoglobinopathies in Canada  Journal Articles
• Hemoglobinopathies mimicking Hb S/β‐thalassemia: Hb S/S with α‐thalassemia and Hb S/Volga  Journal Articles
• Hemoglobiri_Bethesda, β145 (HC2) Tyr→His, in a Canadian Family  Journal Articles
• High Oxygen Affinity Hemoglobin Variant in a Canadian Family: Hb Bunbury [β94(FG1)Asp→Asn,GAC→AAC]  Journal Articles
• Homozygous HB Sallanches [α104(G11)CYS→TYR] in a Pakistani Child with HB H Disease  Journal Articles
• How we diagnose and manage altered oxygen affinity hemoglobin variants  Journal Articles
• Human embryonic zeta-globin chains in fetal and newborn blood  Journal Articles
• Identifican of A New High Oxygen Affinity Hemoglobin Variant: Hb Aurora [β139(H17)Asn→Tyr]  Journal Articles
• Identification of a New δ Chain Hemoglobin Variant in a β-Thalassemia Carrier: Hb A₂-MUMC [δ13(A10)Ala → Asp]  Journal Articles
• Identification of a new hemoglobin variant: Hb St. Joseph's [β77(EF1)His→Leu]  Journal Articles
• Identification of hemoglobin E by the isopropanol solubility test  Journal Articles
• Iron overload in transfusion-dependent survivors of hemoglobin Bart’s hydrops fetalis  Journal Articles
• 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)  Journal Articles
• Mild “Unstable Haemoglobin Haemolytic Anaemia” caused by Haemoglobin Shepherds Bush (B74 (E18) Gly→Asp)  Journal Articles
• New and Known β-Thalassemia Determinants Masked by Known and New δ Gene Defects [Hb A₂-Ramallah or δ6(A3)Glu→Gln,GAG>>CAG]  Journal Articles
• Novel High Oxygen Affinity Hemoglobin Variant in a Patient with Polycythemia: Hb Kennisis [β85(F1)Phe→Leu (TTT>TTG); HBB: c.258T>G]  Journal Articles
• Outcomes of haemoglobin Bart’s hydrops fetalis following intrauterine transfusion in Ontario, Canada  Journal Articles
• Second Report of Hb Toulon [α77(EF6)Pro→His] in a Canadian Family of Italian Descent  Journal Articles
• Sickle cell disease caused by Hb S/Québec‐CHORI: Treatment with hydroxyurea and response  Journal Articles
• Simple non-invasive prenatal detection of Hb Bart's disease by analysis of fetal erythrocytes in maternal blood  Journal Articles
• 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]  Journal Articles
• The Intrauterine Diagnosis of Hemoglobin Disorders  Journal Articles
• The alpha-globin gene cluster: genetics and disorders.  Journal Articles
• The clinical significance of hemoglobinopathies in the Hamilton region: a twenty-year review  Journal Articles
• Three New α-Thalassemia Point Mutations Ascertained Through Newborn Screening  Journal Articles
• Universal Newborn Screening for Hb H Disease in California  Journal Articles
• α‐Thalassemia: Hb H Disease and Hb Barts Hydrops Fetalis  Journal Articles
• β‐thalassemia in association with a new δ‐chain hemoglobin variant [δ116(g18)Arg→Leu]: Implications for carrier screening and prenatal diagnosis  Journal Articles
• β‐thalassemia intermedia caused by compound heterozygosity for Hb Malay (β codon 19 AAC→AGC; Asn→Ser) and codons 41/42 (‐CTTT) β ⁰ ‐thalassemia mutation  Journal Articles