Matches in SemOpenAlex for { <https://semopenalex.org/work/W2079748183> ?p ?o ?g. }
Showing items 1 to 60 of
60
with 100 items per page.
- W2079748183 endingPage "92" @default.
- W2079748183 startingPage "92" @default.
- W2079748183 abstract "Background: Hemoglobinopathies are priority genetic diseases for prevention programs. Beta thalassaemia major is one of the single gene blood disorders worldwide. It is also a major health concern in India. Screening of carriers all the way through diverse screening approach is the only way to prevent birth of thalassaemia major child. Objective: This study was done to screen and molecularly characterize beta thalassaemia mutations in the parents and siblings of thalassaemia major index cases using ARMS polymerase chain reaction for the common Indian mutations and also as an alternative approach to population based screening program for identifying thalassaemia carriers to prevent birth of thalassaemic children in the family members of a thalassaemia index family. Methods: Blood samples were collected from thirty families of thalassaemia index cases. Fifty samples from parents and thirty three siblings of them were given their samples for thalassaemia carrier screening and molecular characterization of five common Indian ?-thalassaemia mutations using amplification refractory mutation system polymerase chain reaction. Results: Seventy five (90%) cases of heterozygous beta thalassaemia were detected in the survey of 83 samples of parents and siblings having beta thalassaemia major children. Conclusion: Screening of siblings of thalassaemia major cases is necessary and facilitate detection of carriers ultimately helps in prevention of birth of Thalassaemic child." @default.
- W2079748183 created "2016-06-24" @default.
- W2079748183 creator A5053251875 @default.
- W2079748183 creator A5084218517 @default.
- W2079748183 date "2014-02-28" @default.
- W2079748183 modified "2023-10-14" @default.
- W2079748183 title "Screening and Molecular Characterization of β-thalassaemia Mutations in Parents and Siblings of Thalassaemia Major Patients" @default.
- W2079748183 cites W116740385 @default.
- W2079748183 cites W1902540685 @default.
- W2079748183 cites W1986528127 @default.
- W2079748183 cites W2012709688 @default.
- W2079748183 cites W2022335403 @default.
- W2079748183 cites W2032272243 @default.
- W2079748183 cites W2048725152 @default.
- W2079748183 cites W2064063117 @default.
- W2079748183 cites W2076003537 @default.
- W2079748183 cites W2082428301 @default.
- W2079748183 cites W2118094114 @default.
- W2079748183 cites W2123727653 @default.
- W2079748183 cites W2141671669 @default.
- W2079748183 cites W2159074812 @default.
- W2079748183 cites W2169061994 @default.
- W2079748183 doi "https://doi.org/10.7439/ijbr.v5i2.459" @default.
- W2079748183 hasPublicationYear "2014" @default.
- W2079748183 type Work @default.
- W2079748183 sameAs 2079748183 @default.
- W2079748183 citedByCount "1" @default.
- W2079748183 countsByYear W20797481832021 @default.
- W2079748183 crossrefType "journal-article" @default.
- W2079748183 hasAuthorship W2079748183A5053251875 @default.
- W2079748183 hasAuthorship W2079748183A5084218517 @default.
- W2079748183 hasConcept C187212893 @default.
- W2079748183 hasConcept C54355233 @default.
- W2079748183 hasConcept C71924100 @default.
- W2079748183 hasConcept C86803240 @default.
- W2079748183 hasConceptScore W2079748183C187212893 @default.
- W2079748183 hasConceptScore W2079748183C54355233 @default.
- W2079748183 hasConceptScore W2079748183C71924100 @default.
- W2079748183 hasConceptScore W2079748183C86803240 @default.
- W2079748183 hasIssue "2" @default.
- W2079748183 hasLocation W20797481831 @default.
- W2079748183 hasOpenAccess W2079748183 @default.
- W2079748183 hasPrimaryLocation W20797481831 @default.
- W2079748183 hasRelatedWork W1995515455 @default.
- W2079748183 hasRelatedWork W2039318446 @default.
- W2079748183 hasRelatedWork W2080531066 @default.
- W2079748183 hasRelatedWork W2409957712 @default.
- W2079748183 hasRelatedWork W2410491650 @default.
- W2079748183 hasRelatedWork W2604682584 @default.
- W2079748183 hasRelatedWork W2748952813 @default.
- W2079748183 hasRelatedWork W2899084033 @default.
- W2079748183 hasRelatedWork W3031052312 @default.
- W2079748183 hasRelatedWork W3032375762 @default.
- W2079748183 hasVolume "5" @default.
- W2079748183 isParatext "false" @default.
- W2079748183 isRetracted "false" @default.
- W2079748183 magId "2079748183" @default.
- W2079748183 workType "article" @default.