Matches in SemOpenAlex for { <https://semopenalex.org/work/W2078233197> ?p ?o ?g. }
Showing items 1 to 86 of
86
with 100 items per page.
- W2078233197 endingPage "284" @default.
- W2078233197 startingPage "277" @default.
- W2078233197 abstract "The aim of this study was to identify the molecular defects leading to the variable clinical and hematological presentation of four patients with Hb H disease. Investigations included a complete blood count, high performance liquid chromatography (HPLC) analyses, cellulose acetate electrophoresis (pH 8.9), heat stability test, α genotyping by multiplex gap polymerase chain reaction (gap-PCR) to screen for the eight common α-globin gene deletions and DNA sequencing to detect the other deletional and nondeletional α-globin gene mutations. Two patients aged 15 and 5.5 years had a mild clinical presentation. The first patient aged 3 years had a severe presentation requiring regular transfusions. This patient also had an enlarged spleen and had to undergo splenectomy. The third patient, aged 5 years, also had severe anemia, had been transfused once and had a spleen of 4.5 cms. The hemoglobin (Hb) levels in the four patients ranged from 4.2 to 8.2 g/dL and they all had reticulocytosis (10.0 to 31.0%). Cellulose acetate electrophoresis at pH 8.9 showed a fast moving band that ranged from 18.0 to 25.9%. All the four patients were homozygous for the polyadenylation signal A (polyA) TIndian (AATAAA>AATA–) mutation. This mutation has been seen in Eastern India but not from Maharashtra and Uttar Pradesh where our patients originated." @default.
- W2078233197 created "2016-06-24" @default.
- W2078233197 creator A5017913326 @default.
- W2078233197 creator A5031782697 @default.
- W2078233197 creator A5059146350 @default.
- W2078233197 creator A5060219108 @default.
- W2078233197 date "2013-03-21" @default.
- W2078233197 modified "2023-09-27" @default.
- W2078233197 title "Variable Presentation of HB H Disease Due to Homozygosity for the Rare Polyadenylation Signal A T<sup>Indian</sup>(AATA<i>AA</i>>AATA– –) Mutation in Four Indian Families" @default.
- W2078233197 cites W1968323056 @default.
- W2078233197 cites W2014776347 @default.
- W2078233197 cites W2022160259 @default.
- W2078233197 cites W2032346207 @default.
- W2078233197 cites W2036640185 @default.
- W2078233197 cites W2044757035 @default.
- W2078233197 cites W2046042205 @default.
- W2078233197 cites W2071163353 @default.
- W2078233197 cites W2112925188 @default.
- W2078233197 cites W2127487781 @default.
- W2078233197 cites W2141074639 @default.
- W2078233197 cites W2150644950 @default.
- W2078233197 cites W2163197284 @default.
- W2078233197 cites W2254126603 @default.
- W2078233197 cites W2338611362 @default.
- W2078233197 cites W2416229948 @default.
- W2078233197 cites W4211199099 @default.
- W2078233197 cites W2030435641 @default.
- W2078233197 doi "https://doi.org/10.3109/03630269.2013.774284" @default.
- W2078233197 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/23517369" @default.
- W2078233197 hasPublicationYear "2013" @default.
- W2078233197 type Work @default.
- W2078233197 sameAs 2078233197 @default.
- W2078233197 citedByCount "8" @default.
- W2078233197 countsByYear W20782331972015 @default.
- W2078233197 countsByYear W20782331972017 @default.
- W2078233197 countsByYear W20782331972018 @default.
- W2078233197 countsByYear W20782331972022 @default.
- W2078233197 crossrefType "journal-article" @default.
- W2078233197 hasAuthorship W2078233197A5017913326 @default.
- W2078233197 hasAuthorship W2078233197A5031782697 @default.
- W2078233197 hasAuthorship W2078233197A5059146350 @default.
- W2078233197 hasAuthorship W2078233197A5060219108 @default.
- W2078233197 hasConcept C104317684 @default.
- W2078233197 hasConcept C126322002 @default.
- W2078233197 hasConcept C135763542 @default.
- W2078233197 hasConcept C153911025 @default.
- W2078233197 hasConcept C2778917026 @default.
- W2078233197 hasConcept C31467283 @default.
- W2078233197 hasConcept C501734568 @default.
- W2078233197 hasConcept C54355233 @default.
- W2078233197 hasConcept C71924100 @default.
- W2078233197 hasConcept C76818968 @default.
- W2078233197 hasConcept C86803240 @default.
- W2078233197 hasConceptScore W2078233197C104317684 @default.
- W2078233197 hasConceptScore W2078233197C126322002 @default.
- W2078233197 hasConceptScore W2078233197C135763542 @default.
- W2078233197 hasConceptScore W2078233197C153911025 @default.
- W2078233197 hasConceptScore W2078233197C2778917026 @default.
- W2078233197 hasConceptScore W2078233197C31467283 @default.
- W2078233197 hasConceptScore W2078233197C501734568 @default.
- W2078233197 hasConceptScore W2078233197C54355233 @default.
- W2078233197 hasConceptScore W2078233197C71924100 @default.
- W2078233197 hasConceptScore W2078233197C76818968 @default.
- W2078233197 hasConceptScore W2078233197C86803240 @default.
- W2078233197 hasIssue "3" @default.
- W2078233197 hasLocation W20782331971 @default.
- W2078233197 hasLocation W20782331972 @default.
- W2078233197 hasOpenAccess W2078233197 @default.
- W2078233197 hasPrimaryLocation W20782331971 @default.
- W2078233197 hasRelatedWork W2970797276 @default.
- W2078233197 hasRelatedWork W2990933816 @default.
- W2078233197 hasRelatedWork W3002272979 @default.
- W2078233197 hasRelatedWork W3005951787 @default.
- W2078233197 hasRelatedWork W3084278378 @default.
- W2078233197 hasRelatedWork W3130085093 @default.
- W2078233197 hasRelatedWork W4296023056 @default.
- W2078233197 hasRelatedWork W4309754203 @default.
- W2078233197 hasRelatedWork W4383482395 @default.
- W2078233197 hasRelatedWork W3123069398 @default.
- W2078233197 hasVolume "37" @default.
- W2078233197 isParatext "false" @default.
- W2078233197 isRetracted "false" @default.
- W2078233197 magId "2078233197" @default.
- W2078233197 workType "article" @default.