FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W1543109153> ?p ?o ?g. }

• W1543109153 abstract "With the exception of rare non-α-globin gene-related forms and of acquired forms in patients with myelodysplasia, α-thalassaemias are very widespread worldwide. However, the most severe forms are found among populations of Asian and Mediterranean ancestry. Clinical manifestations of α-thalassaemia are highly variable, ranging from asymptomatic subjects to a more or less severe haemolytic anaemia. The most severe form, haemoglobin (Hb) Bart's hydrops fetalis (absence of functional α-globin genes), leads to death in utero or at birth. Antenatal screening is available for couples at risk for this severe form, that is, carriers of an α zero thalassaemia allele (absence of any functional α gene on one chromosome 16). Carrier detection is first based on red blood cell indices and confirmed by molecular analysis. Selective advantage against severe Plasmodium falciparum infection has been demonstrated for individuals with α-thalassaemia. α-Thalassaemia is also a genetic modifier in sickle cell syndromes.Key Concepts: α-Thalassaemia has become a widespread genetic disorder worldwide due to the relative protection it confers against life-threatening malarial anaemia.There are four main forms of α-thalassaemia depending on the number of remaining functional α-globin gene(s) in the individual.α-Thalassaemia can be a severe condition: absence of three α genes results in chronic haemolytic anaemia of variable severity (Hb H disease), whereas the total absence of functional α-globin gene leads to haemoglobin Bart's hydrops fetalis, a usually lethal condition.In utero transfusion therapy and stem cell transplantation may improve the outcome of fetuses and infants with Hb Bart's hydrops fetalis in very rare cases.α-Thalassaemia carriers are usually clinically asymptomatic; however, detection of carriers of α zero thalassaemia is of utmost importance to prevent hydrops fetalis.α-Thalassaemia carriers may benefit from the diagnosis of their condition, as this may avoid unnecessary iron therapy due to the presence of microcytosis.α-Thalassaemia is a genetic modifier of sickle cell disease severity through the reduction in the haemolytic rate and a higher haemoglobin level.Keywords:α-thalassaemia;molecular genetics;prevention;malaria;sickle cell disease" @default.
• W1543109153 created "2016-06-24" @default.
• W1543109153 creator A5017124432 @default.
• W1543109153 creator A5074090438 @default.
• W1543109153 date "2018-10-15" @default.
• W1543109153 modified "2023-10-17" @default.
• W1543109153 title "Molecular Genetics of the α-Thalassaemias" @default.
• W1543109153 cites W1553587640 @default.
• W1543109153 cites W1559307951 @default.
• W1543109153 cites W1585156201 @default.
• W1543109153 cites W1774432692 @default.
• W1543109153 cites W186426134 @default.
• W1543109153 cites W1965872881 @default.
• W1543109153 cites W1967531405 @default.
• W1543109153 cites W1973984103 @default.
• W1543109153 cites W1975882401 @default.
• W1543109153 cites W1980686214 @default.
• W1543109153 cites W1993646556 @default.
• W1543109153 cites W199393875 @default.
• W1543109153 cites W199480895 @default.
• W1543109153 cites W2002726419 @default.
• W1543109153 cites W2006754069 @default.
• W1543109153 cites W2011400433 @default.
• W1543109153 cites W2012618006 @default.
• W1543109153 cites W2017948042 @default.
• W1543109153 cites W2019869394 @default.
• W1543109153 cites W2020310537 @default.
• W1543109153 cites W2025381784 @default.
• W1543109153 cites W2028815384 @default.
• W1543109153 cites W2032833517 @default.
• W1543109153 cites W2043430985 @default.
• W1543109153 cites W2044757035 @default.
• W1543109153 cites W2048447535 @default.
• W1543109153 cites W2056118078 @default.
• W1543109153 cites W2060807580 @default.
• W1543109153 cites W2062467558 @default.
• W1543109153 cites W2066521171 @default.
• W1543109153 cites W2072715844 @default.
• W1543109153 cites W2082170539 @default.
• W1543109153 cites W2084169030 @default.
• W1543109153 cites W2091640955 @default.
• W1543109153 cites W2107934195 @default.
• W1543109153 cites W2113495643 @default.
• W1543109153 cites W2123033581 @default.
• W1543109153 cites W2124925769 @default.
• W1543109153 cites W2141074639 @default.
• W1543109153 cites W2147128837 @default.
• W1543109153 cites W2147451390 @default.
• W1543109153 cites W2161948160 @default.
• W1543109153 cites W2183287762 @default.
• W1543109153 cites W2326691970 @default.
• W1543109153 cites W242090125 @default.
• W1543109153 cites W2541352323 @default.
• W1543109153 cites W2541866059 @default.
• W1543109153 cites W2542179038 @default.
• W1543109153 cites W2566146173 @default.
• W1543109153 cites W2608952558 @default.
• W1543109153 cites W2751081544 @default.
• W1543109153 cites W2757632339 @default.
• W1543109153 cites W2781995688 @default.
• W1543109153 cites W71778210 @default.
• W1543109153 doi "https://doi.org/10.1002/9780470015902.a0022439.pub2" @default.
• W1543109153 hasPublicationYear "2018" @default.
• W1543109153 type Work @default.
• W1543109153 sameAs 1543109153 @default.
• W1543109153 citedByCount "0" @default.
• W1543109153 crossrefType "reference-entry" @default.
• W1543109153 hasAuthorship W1543109153A5017124432 @default.
• W1543109153 hasAuthorship W1543109153A5074090438 @default.
• W1543109153 hasConcept C126322002 @default.
• W1543109153 hasConcept C172680121 @default.
• W1543109153 hasConcept C187212893 @default.
• W1543109153 hasConcept C203014093 @default.
• W1543109153 hasConcept C2776317666 @default.
• W1543109153 hasConcept C2777674756 @default.
• W1543109153 hasConcept C2777799968 @default.
• W1543109153 hasConcept C2777910003 @default.
• W1543109153 hasConcept C2778258057 @default.
• W1543109153 hasConcept C2779234561 @default.
• W1543109153 hasConcept C54355233 @default.
• W1543109153 hasConcept C71924100 @default.
• W1543109153 hasConcept C86803240 @default.
• W1543109153 hasConceptScore W1543109153C126322002 @default.
• W1543109153 hasConceptScore W1543109153C172680121 @default.
• W1543109153 hasConceptScore W1543109153C187212893 @default.
• W1543109153 hasConceptScore W1543109153C203014093 @default.
• W1543109153 hasConceptScore W1543109153C2776317666 @default.
• W1543109153 hasConceptScore W1543109153C2777674756 @default.
• W1543109153 hasConceptScore W1543109153C2777799968 @default.
• W1543109153 hasConceptScore W1543109153C2777910003 @default.
• W1543109153 hasConceptScore W1543109153C2778258057 @default.
• W1543109153 hasConceptScore W1543109153C2779234561 @default.
• W1543109153 hasConceptScore W1543109153C54355233 @default.
• W1543109153 hasConceptScore W1543109153C71924100 @default.
• W1543109153 hasConceptScore W1543109153C86803240 @default.
• W1543109153 hasLocation W15431091531 @default.
• W1543109153 hasOpenAccess W1543109153 @default.
• W1543109153 hasPrimaryLocation W15431091531 @default.
• W1543109153 hasRelatedWork W1543109153 @default.
• W1543109153 hasRelatedWork W1968568133 @default.

• next