Matches in SemOpenAlex for { <https://semopenalex.org/work/W2565726412> ?p ?o ?g. }
Showing items 1 to 82 of
82
with 100 items per page.
- W2565726412 abstract "Abstract A new unstable hemoglobin (Hb) detected in a 10 year-old boy from San Martin, Buenos Aires, Argentina, is hereby described. The patient (pt) was born at term, after a normal pregnancy, by cesarean section. He had a history of multiple episodes of pallor, jaundice and dark urine related to infections, since 6 months of age. The physical examination only revealed pallor and icterus, with no hepatosplenomegaly. The pt and his mother showed the presence of an anomalous band on both alkaline and acid pH electrophoresis. Isopropanol and sickling tests were positive. In order to identify the abnormal Hb variant the β globin gene was analysed. Three exons were amplified and automatically sequenced with direct and reverse probes. Table 1. Hematological data Patient Mother Hb g/dl/PCV % 10.9/36 10.5/34 MCV fl/MCH pg 79.4/24.1 80.7/24.6 RDW % 15.7 18.2 Reticulocyte count % 5.2 8.0 Electrophoresis (pH 9) A/X/A2 A/X/A2 Electrophoresis (pH 5) X/A-A2 X/A-A2 Sickling/Isopropanol tests Positive/Positive Positive/Positive Inclusion bodies Positive Positive Two mutations were identified in the same β globin gene. One in Exon 1, corresponding to Hb S [Ex1 β6 Glu→Val (GAG→GTG)]; and the second one in Exon 2 [Ex2 β85 (F1) Phe→Leu (TTT→CTT)]. This second mutation is responsible for a new unstable Hb that has not been described so far, in association with Hb S. The substitution occurs in an external position between two hydrophobic residues of different size." @default.
- W2565726412 created "2017-01-06" @default.
- W2565726412 creator A5006622343 @default.
- W2565726412 creator A5030119416 @default.
- W2565726412 creator A5043526288 @default.
- W2565726412 creator A5064368438 @default.
- W2565726412 creator A5067825856 @default.
- W2565726412 creator A5069391127 @default.
- W2565726412 creator A5069733584 @default.
- W2565726412 creator A5071956721 @default.
- W2565726412 creator A5075118538 @default.
- W2565726412 creator A5075571330 @default.
- W2565726412 creator A5081705431 @default.
- W2565726412 creator A5082707995 @default.
- W2565726412 creator A5084929171 @default.
- W2565726412 creator A5087863588 @default.
- W2565726412 date "2007-11-16" @default.
- W2565726412 modified "2023-10-18" @default.
- W2565726412 title "Hemoglobin San Martin: A New Unstable Variant Associated with Hemoglobin S in an Argentinean Boy." @default.
- W2565726412 doi "https://doi.org/10.1182/blood.v110.11.3806.3806" @default.
- W2565726412 hasPublicationYear "2007" @default.
- W2565726412 type Work @default.
- W2565726412 sameAs 2565726412 @default.
- W2565726412 citedByCount "2" @default.
- W2565726412 crossrefType "journal-article" @default.
- W2565726412 hasAuthorship W2565726412A5006622343 @default.
- W2565726412 hasAuthorship W2565726412A5030119416 @default.
- W2565726412 hasAuthorship W2565726412A5043526288 @default.
- W2565726412 hasAuthorship W2565726412A5064368438 @default.
- W2565726412 hasAuthorship W2565726412A5067825856 @default.
- W2565726412 hasAuthorship W2565726412A5069391127 @default.
- W2565726412 hasAuthorship W2565726412A5069733584 @default.
- W2565726412 hasAuthorship W2565726412A5071956721 @default.
- W2565726412 hasAuthorship W2565726412A5075118538 @default.
- W2565726412 hasAuthorship W2565726412A5075571330 @default.
- W2565726412 hasAuthorship W2565726412A5081705431 @default.
- W2565726412 hasAuthorship W2565726412A5082707995 @default.
- W2565726412 hasAuthorship W2565726412A5084929171 @default.
- W2565726412 hasAuthorship W2565726412A5087863588 @default.
- W2565726412 hasConcept C104317684 @default.
- W2565726412 hasConcept C126322002 @default.
- W2565726412 hasConcept C153911025 @default.
- W2565726412 hasConcept C185592680 @default.
- W2565726412 hasConcept C2778124894 @default.
- W2565726412 hasConcept C2778248108 @default.
- W2565726412 hasConcept C2778917026 @default.
- W2565726412 hasConcept C2779134260 @default.
- W2565726412 hasConcept C2779440204 @default.
- W2565726412 hasConcept C36823959 @default.
- W2565726412 hasConcept C54355233 @default.
- W2565726412 hasConcept C71924100 @default.
- W2565726412 hasConcept C86803240 @default.
- W2565726412 hasConceptScore W2565726412C104317684 @default.
- W2565726412 hasConceptScore W2565726412C126322002 @default.
- W2565726412 hasConceptScore W2565726412C153911025 @default.
- W2565726412 hasConceptScore W2565726412C185592680 @default.
- W2565726412 hasConceptScore W2565726412C2778124894 @default.
- W2565726412 hasConceptScore W2565726412C2778248108 @default.
- W2565726412 hasConceptScore W2565726412C2778917026 @default.
- W2565726412 hasConceptScore W2565726412C2779134260 @default.
- W2565726412 hasConceptScore W2565726412C2779440204 @default.
- W2565726412 hasConceptScore W2565726412C36823959 @default.
- W2565726412 hasConceptScore W2565726412C54355233 @default.
- W2565726412 hasConceptScore W2565726412C71924100 @default.
- W2565726412 hasConceptScore W2565726412C86803240 @default.
- W2565726412 hasLocation W25657264121 @default.
- W2565726412 hasOpenAccess W2565726412 @default.
- W2565726412 hasPrimaryLocation W25657264121 @default.
- W2565726412 hasRelatedWork W117752775 @default.
- W2565726412 hasRelatedWork W144394940 @default.
- W2565726412 hasRelatedWork W2022398727 @default.
- W2565726412 hasRelatedWork W2069867055 @default.
- W2565726412 hasRelatedWork W2100020054 @default.
- W2565726412 hasRelatedWork W2130855665 @default.
- W2565726412 hasRelatedWork W2132700867 @default.
- W2565726412 hasRelatedWork W2372991586 @default.
- W2565726412 hasRelatedWork W34678310 @default.
- W2565726412 hasRelatedWork W2183915518 @default.
- W2565726412 isParatext "false" @default.
- W2565726412 isRetracted "false" @default.
- W2565726412 magId "2565726412" @default.
- W2565726412 workType "article" @default.