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About 180 results

ALLMedicine™ Alpha Thalassemia Center

Research & Reviews  68 results

Hb Maruchi α165 (E14) Ala>Pro; HBA1: c.196G>C: A new thalassemia hemoglobinopathy relat...
https://doi.org/10.1016/j.clinbiochem.2021.02.010
Clinical Biochemistry; Ropero P, M Nieto J et. al.

Mar 7th, 2021 - To describe a new mutation causing alpha thalassemia and its mechanism of action. The propositus was a 37-year-old man who presented maintained microcytosis without iron deficiency. Molecular characterization was undertaken using automatic sequenc...

Alpha thalassemia, but not βS-globin haplotypes, influence sickle cell anemia clinical ...
https://doi.org/10.1007/s00277-021-04450-x 10.1100/2012/949535 10.1101/cshperspect.a011783 10.1080/03630260701290233 10.1182/blood.V68.5.985.985 10.1016/S0889-8588(18)30426-X 10.1590/S1516-84842007000300003 10.1590/S1516-84842010005000005 10.1590/S1415-475738320140231 10.1111/j.1365-2141.2005.05411.x 10.1016/j.blre.2006.07.001 10.1182/blood-2005-04-1594 10.1111/j.1365-2141.2007.06643.x 10.1586/ehm.10.44 10.1016/j.jpeds.2011.07.018 10.4084/mjhid.2015.060 10.1016/S0022-3476(05)80897-2 10.3109/03630268908998842 10.1100/tsw.2009.10 10.1111/j.1600-0609.2011.01705.x 10.1172/JCI89741 10.1182/blood-2011-03-325258 10.1002/jmri.24785.Free-Breathing 10.1056/NEJM198504043121403 10.1111/j.1600-0609.2010.01528.x 10.1073/pnas.81.6.1771 10.1002/1096-8652(200011)65:3<192::AID-AJH3>3.0.CO;2-N 10.1056/NEJMra1510865 10.1002/ajh.23232 10.1097/00043426-199023000-00022 10.1016/j.cupe.2004.10.009 10.1590/S1415-47572011005000027 10.5581/1516-8484.20130048 10.1073/pnas.0611393104 10.1073/pnas.0711566105 10.1177/1535370216642047 10.1007/s40291-018-0370-8 10.1182/blood.V85.4.1111.bloodjournal8541111 10.1159/000320271 10.1056/NEJM198606193142501 10.1056/nejm199505183322001 10.1182/blood-2005-02-0548 10.1111/j.1365-2141.2004.05295.x 10.1111/j.1365-2141.2006.06074.x 10.1002/ajh.2830320113 10.1111/j.1365-2141.1993.tb04639.x 10.3233/CH-189012 10.1016/j.blre.2015.12.003 10.1182/bloodadvances.2019000193 10.3233/CH-189009 10.3109/03630269.2010.526003 10.1590/S1415-47572008000400003 10.1034/j.1600-0609.2000.90210.x 10.1182/blood.V84.2.643.643 10.1002/(SICI)1096-8652(200006)64:2<87::AID-AJH2>3.0.CO;2-B 10.1182/blood.V74.4.1403.1403 10.1002/ajh.2830450402 10.1182/blood-2011-01-332205 10.1111/ejh.12607 10.1186/1471-2350-4-6 10.1016/S0037-1963(01)90023-X 10.1002/ajh.10140 10.1097/01.sla.0000242716.66878.23 10.1159/000040890 10.1002/ajh20574 10.1056/NEJM198206173062402 10.5045/kjh.2011.46.3.192 10.1002/ajh.21838 10.1016/j.bjhh.2014.06.002 10.1002/jcla.22656 10.1371/journal.pone.0100516 10.1016/j.hoc.2013.11.006 10.1002/ajh.23711 10.1182/blood.V64.5.1042.1042 10.1056/NEJM199406093302303 10.1056/NEJM200005253422114 10.1097/01.md.0000189089.45003.52 10.1186/1471-2156-8-52 10.1007/s00277-020-04048-9 10.1002/ajpa.1330880304 10.1002/(SICI)1096-8652(199610)53:2<72::AID-AJH3>3.0.CO;2-0 10.1002/ajhb.21047 10.1590/S1516-84842010000100017 10.4236/ojbd.2014.42003 10.5935/1676-2444.20160001 10.1001/archpedi.1993.02160350071011 10.1002/ajh.2830360305 10.1016/j.bcmd.2012.12.005 10.1073/pnas.0804799105 10.1080/03630260601057153 10.1590/S0100-879X2003001000001 10.1081/HEM-120040310 10.1016/j.jped.2016.01.010 10.1089/omi.2014.0134 10.1182/bloodadvances.2017014555
Annals of Hematology; Hatzlhofer BLD, Pereira-Martins DA et. al.

Feb 16th, 2021 - Alpha thalassemia and beta-globin haplotype are considered classical genetic disease modifiers in sickle cell anemia (SCA) causing clinical heterogeneity. Nevertheless, their functional impact on SCA disease emergence and progression remains elusi...

Influence of UGT1A1 promoter polymorphism, α-thalassemia and βs haplotype in bilirubin ...
https://doi.org/10.1007/s00277-021-04422-1 10.1038/nrdp.2018.10 10.1002/ajh.21550 10.1080/03630260701290233 10.1172/JCI89741 10.1007/s40291-017-0283-y 10.1056/NEJM199511023331802 10.3978/j.issn.2304-3881.2014.08.04 10.1002/humu.9322 10.1007/s11033-018-4305-6 10.1016/j.bcmd.2006.10.160 10.1371/journal.pone.0077681 10.1016/S0168-8278(02)00359-8 10.1155/2013/173474 10.1002/kjm2.12077 10.1159/000040890 10.1111/j.1365-2141.2007.06643.x 10.1016/S0140-6736(96)91266-0 10.1016/j.bjhh.2016.09.009 10.4137/gei.s2626 10.1177/1535370216636726 10.1111/bjh.15462 10.1016/S1079-9796(03)00071-8 10.1002/ajh.21264 10.1002/ajmg.10209 10.1034/j.1399-0004.2003.00113.x 10.1093/tropej/fmp131 10.1002/ajhb.22871 10.1038/jp.2010.48 10.1111/bjh.16244 10.1111/ejh.12838 10.1111/j.1600-0609.2005.00477.x 10.4084/MJHID.2015.060 10.1097/00043426-200110000-00011 10.1007/s10038-008-0281-3 10.1186/s12881-019-0899-3 10.1182/blood-2004-02-0521 10.1002/ajh.23457 10.1007/s00277-014-2016-1 10.1080/03630260601057153 10.1136/adc.64.9.1342 10.1002/ajh.2830480307 10.1182/bloodadvances.2017014555 10.1111/bjh.13961 10.1073/pnas.0804799105 10.1111/bjh.12814 10.1371/journal.pone.0100516 10.1002/ajh
Annals of Hematology; Batista JVGF, Arcanjo GS et. al.

Feb 2nd, 2021 - Hyperbilirubinemia in patients with sickle cell anemia (SCA) as a result of enhanced erythrocyte destruction, lead to cholelithiasis development in a subset of patients. Evidence suggests that hyperbilirubinemia may be related to genetic variation...

Loss of alpha-globin genes in human subjects is associated with improved nitric oxide-m...
https://doi.org/10.1002/ajh.26058
American Journal of Hematology; Denton CC, Shah P et. al.

Nov 29th, 2020 - Alpha thalassemia is a hemoglobinopathy due to decreased production of the α-globin protein from loss of up to four α-globin genes, with one or two missing in the trait phenotype. Individuals with sickle cell disease who co-inherit the loss of one...

Third-generation sequencing: any future opportunities for PGT?
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7884560
Journal of Assisted Reproduction and Genetics; Liu S, Wang H et. al.

Nov 20th, 2020 - To investigate use of the third-generation sequencing (TGS) Oxford Nanopore system as a new approach for preimplantation genetic testing (PGT). Embryos with known structural variations underwent multiple displacement amplification to create fragme...

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Clinicaltrials.gov  2 results

Genetics of Alpha Thalassemia in Israeli Ethnic Groups
https://clinicaltrials.gov/ct2/show/NCT00159029

Aug 10th, 2017 - Alpha thalassemia causes mild anemia and is found in many ethnic groups. Usually it is found in regions where malaria is endemic. We have found that alpha thalassemia is common in Ashkenazim, whose countries of origin are in temperate climates. We...

Evaluating People With Thalassemia: The Thalassemia Longitudinal Cohort (TLC) Study
https://clinicaltrials.gov/ct2/show/NCT00661804

Nov 11th, 2011 - Thalassemias are inherited blood disorders that are characterized by low levels of hemoglobin and healthy red blood cells. The two major types of thalassemia are alpha thalassemia and beta thalassemia, and there are several forms of each type. Sym...

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Patient Education  2 results see all →