Matches in SemOpenAlex for { <https://semopenalex.org/work/W4287244520> ?p ?o ?g. }
Showing items 1 to 72 of
72
with 100 items per page.
- W4287244520 endingPage "100" @default.
- W4287244520 startingPage "95" @default.
- W4287244520 abstract "The Siriraj I Gγ(Aγδβ)0-thalassaemia is a novel mutation involving a 118kb deletion of the β-globin gene cluster. It was first reported in 2012 in two unrelated families from the southern part of Thailand. The carriers in the heterozygous state are clinically asymptomatic. Nonetheless, its complex interaction with other β-thalassaemia could give rise to different clinical phenotypes, ranging from mild thalassaemia intermedia to thalassaemia major. We report here a case of a six-year-old Malay boy, presented with pallor, growth failure and hepatosplenomegaly. His haemoglobin at presentation was 9.2g/dL with a mean cell haemoglobin of 22.6pg and a mean cell volume of 69.9fl. His peripheral blood smear showed features of thalassaemia intermedia. Haemoglobin (Hb) analysis revealed markedly raised Hb F (83%), normal HbA2 levels and absent HbA. Deoxyribonucleic acid (DNA) analysis showed compound heterozygous IVS1-1 (G→T) β-globin gene mutation and Siriraj I Gγ(Aγδβ)0-deletion (genotype βIVS1-1/ β Siriraj I deletion). Both his father and elder sister are carriers of Siriraj I Gγ(Aγδβ)0-thalassaemia while his mother carries IVS1-1 (G→T) gene mutation. Clinically, the patient is transfusion dependent on six weekly regime. To the best of our knowledge, this is the first reported case in Malaysia involving unique Siriraj I Gγ(Aγδβ)0-thalassaemia and IVS1-1 (G→T) in a compound heterozygous state. In summary, detection of Siriraj I Gγ(Aγδβ)0-thalassaemia is essential as this deletion can lead to severe disease upon interaction with a β-thalassemia point mutation as demonstrated in our case. The establishment of effective carrier screening and genetic counselling is important to prevent its adverse consequences." @default.
- W4287244520 created "2022-07-25" @default.
- W4287244520 creator A5007285980 @default.
- W4287244520 creator A5019824102 @default.
- W4287244520 creator A5023362241 @default.
- W4287244520 creator A5030514053 @default.
- W4287244520 creator A5031558333 @default.
- W4287244520 creator A5049671810 @default.
- W4287244520 creator A5053155587 @default.
- W4287244520 creator A5063531597 @default.
- W4287244520 creator A5078809535 @default.
- W4287244520 date "2021-04-01" @default.
- W4287244520 modified "2023-10-16" @default.
- W4287244520 title "Siriraj I Gγ(Aγδβ)0-thalassaemia causing severe thalassaemia intermedia in compound heterozygous state with IVS1-1(G→T) mutation." @default.
- W4287244520 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/33903312" @default.
- W4287244520 hasPublicationYear "2021" @default.
- W4287244520 type Work @default.
- W4287244520 citedByCount "0" @default.
- W4287244520 crossrefType "journal-article" @default.
- W4287244520 hasAuthorship W4287244520A5007285980 @default.
- W4287244520 hasAuthorship W4287244520A5019824102 @default.
- W4287244520 hasAuthorship W4287244520A5023362241 @default.
- W4287244520 hasAuthorship W4287244520A5030514053 @default.
- W4287244520 hasAuthorship W4287244520A5031558333 @default.
- W4287244520 hasAuthorship W4287244520A5049671810 @default.
- W4287244520 hasAuthorship W4287244520A5053155587 @default.
- W4287244520 hasAuthorship W4287244520A5063531597 @default.
- W4287244520 hasAuthorship W4287244520A5078809535 @default.
- W4287244520 hasConcept C104317684 @default.
- W4287244520 hasConcept C12125453 @default.
- W4287244520 hasConcept C126322002 @default.
- W4287244520 hasConcept C135763542 @default.
- W4287244520 hasConcept C153911025 @default.
- W4287244520 hasConcept C176944494 @default.
- W4287244520 hasConcept C2777799968 @default.
- W4287244520 hasConcept C2777910003 @default.
- W4287244520 hasConcept C501734568 @default.
- W4287244520 hasConcept C54355233 @default.
- W4287244520 hasConcept C71924100 @default.
- W4287244520 hasConcept C86803240 @default.
- W4287244520 hasConceptScore W4287244520C104317684 @default.
- W4287244520 hasConceptScore W4287244520C12125453 @default.
- W4287244520 hasConceptScore W4287244520C126322002 @default.
- W4287244520 hasConceptScore W4287244520C135763542 @default.
- W4287244520 hasConceptScore W4287244520C153911025 @default.
- W4287244520 hasConceptScore W4287244520C176944494 @default.
- W4287244520 hasConceptScore W4287244520C2777799968 @default.
- W4287244520 hasConceptScore W4287244520C2777910003 @default.
- W4287244520 hasConceptScore W4287244520C501734568 @default.
- W4287244520 hasConceptScore W4287244520C54355233 @default.
- W4287244520 hasConceptScore W4287244520C71924100 @default.
- W4287244520 hasConceptScore W4287244520C86803240 @default.
- W4287244520 hasIssue "1" @default.
- W4287244520 hasLocation W42872445201 @default.
- W4287244520 hasOpenAccess W4287244520 @default.
- W4287244520 hasPrimaryLocation W42872445201 @default.
- W4287244520 hasRelatedWork W13046244 @default.
- W4287244520 hasRelatedWork W14950802 @default.
- W4287244520 hasRelatedWork W15047658 @default.
- W4287244520 hasRelatedWork W17207196 @default.
- W4287244520 hasRelatedWork W19225464 @default.
- W4287244520 hasRelatedWork W2287878 @default.
- W4287244520 hasRelatedWork W9740971 @default.
- W4287244520 hasRelatedWork W9932732 @default.
- W4287244520 hasRelatedWork W17605491 @default.
- W4287244520 hasRelatedWork W7807399 @default.
- W4287244520 hasVolume "43" @default.
- W4287244520 isParatext "false" @default.
- W4287244520 isRetracted "false" @default.
- W4287244520 workType "article" @default.