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Interactions of electrophoretically silent hemoglobin Hekinan II [HBA1:c.84G>T] with various forms of α-thalassemias and other hemoglobinopathies: novel insights into the molecular and hematological characteristics and genetic origins.
Libyan J Med
December 2024
Department of Medical Technology, Uttaradit Hospital, Uttaradit, Thailand.
To determine the molecular basis, genotype - phenotype relationship, and genetic origin of Hemoglobin (Hb) Hekinan associated with several forms of α-thalassemia and other hemoglobinopathies for a better understanding of its diverse clinical phenotypes. Seventeen participants with suspected abnormal Hb were studied. Hb analysis was performed using high-performance liquid chromatography (HPLC) and capillary electrophoresis (CE).
View Article and Find Full Text PDFHb Belluno [β111(G13)Val→Gly;β133(H11)Val→Val (HBB: c.335T > G;402G > C)]: Incidental Detection of a New Clinically Silent β Chain Variant During Hb A1c Determination by High Performance Liquid Chromatography.
Hemoglobin
June 2016
b Molecular Genetics Laboratory, Unit of Medical Genetics, University of Ferrara, Ferrara , Italy.
A previously unreported β chain variant, Hb Belluno [β111(G13)Val→Gly;β133(H11)Val→Val (HBB: c.335T > G;402G > C)], was incidentally discovered in a woman suffering from diabetes, during glycated hemoglobin (Hb A1c) assay. Its presence was suspected because of a small abnormal peak with a retention time just shorter than that of normal Hb A1c.
View Article and Find Full Text PDFHb Manukau [β67(E11)Val → Gly; HBB: c.203T>G]: the role of genetic testing in the diagnosis of idiopathic hemolytic anemia.
Hemoglobin
February 2015
Department of Pediatrics, University of South Florida, Tampa, Florida , USA .
The increasing availability of DNA sequencing of globin genes has improved our ability to detect conditions that were presumed to be extremely rare. These conditions may remain undiagnosed due to unfamiliarity with clinical presentation, relative unavailability of advanced diagnostic alternatives, or may defy detection by being electrophoretically silent or extreme instability rendering their presence to be below detection level. Genetic studies were pursued in a mother and daughter with severe hemolytic anemia as initial testing failed to be diagnostic.
View Article and Find Full Text PDFHb Ashburton [β12(A9)Thr → Pro; HBB: c.37A > C], a novel, mildly unstable variant and the first substitution identified at codon 12.
Hemoglobin
December 2014
Molecular Pathology Laboratory, Canterbury Health Laboratories , Christchurch , New Zealand.
We report the identification of a novel, slightly unstable hemoglobin (Hb) variant [β12(A9)Thr → Pro; HBB: c.37A > C] that came to our attention during Hb A1C ion exchange chromatography where it migrated as a trailing shoulder on the Hb A0 peak. On electrospray ionization mass spectrometry (ESI MS), this electrophoretically silent variant was detected as an unresolved β component with a 2 Da decrease in average β chain mass.
View Article and Find Full Text PDFHb Grove City [β38(C4)Thr→Ser, ACC>AGC; HBB: c.116C>G]: a new low oxygen affinity β chain variant.
Hemoglobin
January 2014
Respiratory Institute, Cleveland Clinic, Cleveland, Ohio 44195, USA.
A previously unreported β chain hemoglobin (Hb) variant, Hb Grove City [β38(C4)Thr→Ser, ACC>AGC; HBB: c.116C>G], was discovered in a woman who presented with hypoxia and mild anemia. Her young daughter also tested positive for the variant and displayed similar symptoms.
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