Matches in SemOpenAlex for { <https://semopenalex.org/work/W3013767714> ?p ?o ?g. }
Showing items 1 to 75 of
75
with 100 items per page.
- W3013767714 abstract "How socioeconomic development affect the diagnosis of thalassemia? Here, we report a couple (husband and wife) from United Arab Emirates (UAE) with microcytic anemia. The parents belong to Arabian tribes with a high prevalence of a- and b-thalassemia. They wanted to have another (sixth) child and their blood counts were investigated before in vitro fertilization. The parents and five children had standard blood tests (complete blood and reticulocyte cell counts, serum ferritin, and hemoglobin analysis) followed by genetic investigations of hemoglobin-a locus 1 and 2. In addition, the parents had a genetic investigation of hemoglobin-b locus for 22 common variants. The parents were found to have no abnormality in hemoglobin-b locus. They had two pathogenic a-globin gene variants: one rare variant in the 3’ prime untranslated region of HBA2 (c.*92A>G; rs63750067) and one common deletion in HBA2 (-a3.7). There were four distinct genotypes: -a3.7 homozygote (mother), c.*92A>G heterozygote (father), double heterozygotes (four children), and -a 3.7 heterozygote (one child). The couple was cleared for the in vitro fertilization. In contrast to ‘standard’ approach, the genetic test for thalassemia is controversial. The findings in this family are discussed in the context of recent epidemiologic and genetic studies in the local population. It was concluded that the rapid development in the UAE was accompanied by acquisition of new information about thalassemia which, paradoxically, increased diagnostic uncertainties in the setting of premarital guidance." @default.
- W3013767714 created "2020-04-03" @default.
- W3013767714 creator A5037980313 @default.
- W3013767714 creator A5038523533 @default.
- W3013767714 creator A5060838591 @default.
- W3013767714 date "2020-03-25" @default.
- W3013767714 modified "2023-09-27" @default.
- W3013767714 title "A Curse of Knowledge in Diagnosis of Thalassemia" @default.
- W3013767714 cites W1964273906 @default.
- W3013767714 cites W1966759968 @default.
- W3013767714 cites W1982257510 @default.
- W3013767714 cites W1994099421 @default.
- W3013767714 cites W2003388803 @default.
- W3013767714 cites W2028542772 @default.
- W3013767714 cites W2033588058 @default.
- W3013767714 cites W2038722173 @default.
- W3013767714 cites W2040307394 @default.
- W3013767714 cites W2075578880 @default.
- W3013767714 cites W2111875392 @default.
- W3013767714 cites W2137659262 @default.
- W3013767714 cites W2167588661 @default.
- W3013767714 cites W36670911 @default.
- W3013767714 cites W4211199099 @default.
- W3013767714 cites W4211225058 @default.
- W3013767714 cites W4290987721 @default.
- W3013767714 cites W2101643415 @default.
- W3013767714 doi "https://doi.org/10.24018/ejmed.2020.2.2.196" @default.
- W3013767714 hasPublicationYear "2020" @default.
- W3013767714 type Work @default.
- W3013767714 sameAs 3013767714 @default.
- W3013767714 citedByCount "0" @default.
- W3013767714 crossrefType "journal-article" @default.
- W3013767714 hasAuthorship W3013767714A5037980313 @default.
- W3013767714 hasAuthorship W3013767714A5038523533 @default.
- W3013767714 hasAuthorship W3013767714A5060838591 @default.
- W3013767714 hasBestOaLocation W30137677141 @default.
- W3013767714 hasConcept C104317684 @default.
- W3013767714 hasConcept C135763542 @default.
- W3013767714 hasConcept C153471976 @default.
- W3013767714 hasConcept C2777799968 @default.
- W3013767714 hasConcept C2908647359 @default.
- W3013767714 hasConcept C54355233 @default.
- W3013767714 hasConcept C71924100 @default.
- W3013767714 hasConcept C84597430 @default.
- W3013767714 hasConcept C86803240 @default.
- W3013767714 hasConcept C99454951 @default.
- W3013767714 hasConceptScore W3013767714C104317684 @default.
- W3013767714 hasConceptScore W3013767714C135763542 @default.
- W3013767714 hasConceptScore W3013767714C153471976 @default.
- W3013767714 hasConceptScore W3013767714C2777799968 @default.
- W3013767714 hasConceptScore W3013767714C2908647359 @default.
- W3013767714 hasConceptScore W3013767714C54355233 @default.
- W3013767714 hasConceptScore W3013767714C71924100 @default.
- W3013767714 hasConceptScore W3013767714C84597430 @default.
- W3013767714 hasConceptScore W3013767714C86803240 @default.
- W3013767714 hasConceptScore W3013767714C99454951 @default.
- W3013767714 hasIssue "2" @default.
- W3013767714 hasLocation W30137677141 @default.
- W3013767714 hasOpenAccess W3013767714 @default.
- W3013767714 hasPrimaryLocation W30137677141 @default.
- W3013767714 hasRelatedWork W1828691184 @default.
- W3013767714 hasRelatedWork W1981006142 @default.
- W3013767714 hasRelatedWork W2020838698 @default.
- W3013767714 hasRelatedWork W2032330532 @default.
- W3013767714 hasRelatedWork W2057739827 @default.
- W3013767714 hasRelatedWork W2348954179 @default.
- W3013767714 hasRelatedWork W2393464409 @default.
- W3013767714 hasRelatedWork W2945182435 @default.
- W3013767714 hasRelatedWork W4233699406 @default.
- W3013767714 hasRelatedWork W4255629234 @default.
- W3013767714 hasVolume "2" @default.
- W3013767714 isParatext "false" @default.
- W3013767714 isRetracted "false" @default.
- W3013767714 magId "3013767714" @default.
- W3013767714 workType "article" @default.