Alpha thalassemia major--new mutations, intrauterine management, and outcomes

Hematology
Elliott Vichinsky

Abstract

Alpha thalassemia disorders are a group of hereditary anemias caused by absent or decreased production of the alpha chain of hemoglobin. Hemoglobin Bart's hydrops fetalis is usually a fatal in-utero disease caused by absence of the alpha genes. However, the molecular and genotypic expression of hemoglobin Bart's varies and increasing numbers of births are being reported. Population screening and prenatal diagnosis of at-risk couples is essential but often not performed. Most affected pregnancies are often undetected, resulting in severe fetal and maternal complications. Noninvasive monitoring by Doppler ultrasonagraphy with intrauterine transfusion therapy has changed the prognosis for this disorder. These advances in intrauterine and postnatal therapy have resulted in ethical dilemmas for the family and the provider.

References

Jun 1, 1991·American Journal of Medical Genetics·T M KoT Y Lee
Nov 15, 1985·American Journal of Obstetrics and Gynecology·F DaffosF Forestier
Jul 1, 1985·British Journal of Obstetrics and Gynaecology·S T LiangD Todd
May 1, 1995·Obstetrics and Gynecology·S CarrJ Dailey
Feb 1, 1997·British Journal of Haematology·Vivian ChanT K Chan
Dec 10, 1998·Acta Paediatrica·P C NgP M Yuen
Dec 29, 2000·Journal of Pediatric Hematology/oncology·S T SingerElliott Vichinsky
Aug 11, 2001·Bone Marrow Transplantation·X ZhouY L Lau
Sep 12, 2001·Genetic Testing·Fred LoreyD H Chui
Nov 28, 2001·British Journal of Haematology·Fred LoreyD H Chui
Feb 20, 2002·Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology·W C LeungGreg Ryan
Jan 8, 2005·Gynecologic and Obstetric Investigation·Chitkasaem Suwanrath-KengpolRoengsak Leetanaporn
Dec 6, 2005·Pediatric and Developmental Pathology : the Official Journal of the Society for Pediatric Pathology and the Paediatric Pathology Society·Sara E MonacoHarshwardhan M Thaker
Jul 14, 2006·The New England Journal of Medicine·Dick OepkesDIAMOND Study Group
Aug 23, 2006·The Journal of Maternal-fetal & Neonatal Medicine : the Official Journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians·Cornelia HofstaetterStephen L Luther
Jul 20, 2007·Journal of Paediatrics and Child Health·Shing Y R LeeMan C Chiu
Nov 13, 2007·Hemoglobin·Can LiaoDongzhi Li
Jan 30, 2008·American Journal of Obstetrics and Gynecology·Kenneth J Moise
Apr 15, 2008·Seminars in Fetal & Neonatal Medicine·W C LeungVivian Chan
Nov 11, 2008·Current Molecular Medicine·D J Weatherall
Nov 13, 2008·Archives of Disease in Childhood. Fetal and Neonatal Edition·B WeiszS Lipitz
Dec 9, 2008·Pediatric Blood & Cancer·Jennifer MichlitschElliott Vichinsky
Apr 18, 2009·Hemoglobin·Yu Yang, Dongzhi Li

Citations

Feb 21, 2013·Case Reports in Obstetrics and Gynecology·David KimBrenna L Anderson
Nov 9, 2015·Current Opinion in Genetics & Development·Stephan J Sanders
Nov 15, 2011·Best Practice & Research. Clinical Obstetrics & Gynaecology·Tak Yeung Leung, Terence T Lao
Sep 11, 2014·Journal of Medicinal Chemistry·Raymond J BergeronNeelam Bharti
Mar 18, 2011·European Journal of Haematology·Yasser WaliRajagopal Krishnamoorthy
Apr 18, 2013·International Journal of Laboratory Hematology·C C Hoppe
Oct 4, 2013·The Journal of Maternal-fetal & Neonatal Medicine : the Official Journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians·Emmanuel N KontomanolisV Limperis
Jan 30, 2015·Frontiers in Pharmacology·S Christopher DerderianTippi C Mackenzie
Dec 4, 2013·Journal of Immunoassay & Immunochemistry·Supansa PataWatchara Kasinrerk
Jan 28, 2017·European Journal of Haematology·Adriaan D de JonghRoger E G Schutgens
May 18, 2019·Biomaterials Science·Sally M WinklerPhillip B Messersmith
Jan 31, 2020·Journal of Obstetrics and Gynaecology : the Journal of the Institute of Obstetrics and Gynaecology·Malihe Nourollahpour ShiadehZahra Behboodi Moghadam
Jul 4, 2020·Archives of Disease in Childhood. Fetal and Neonatal Edition·Hui Jue ZhangMelanie Kirby-Allen
Dec 14, 2017·International Journal of Molecular Sciences·Diego Velasco-RodríguezPilar Llamas-Sillero
May 12, 2018·Pediatric Blood & Cancer·Sharon A SinghDavid H K Chui
Oct 13, 2017·Pakistan Journal of Biological Sciences : PJBS·Niken Satuti Nur HandayaniImmanuel Sanka
Apr 1, 2016·The Medical Journal of Australia·Yi Ling Tan, Giselle Kidson-Gerber

Related Concepts

Hemoglobin Bart's
Hemoglobin Constant Spring
Multiple Congenital Anomalies
Blood Transfusion, Intrauterine
Embryopathies
Abnormal Hemoglobins
Pregnancy Complications, Hematologic
Pregnancy Outcome
Antenatal Screening Procedures
Immune Hydrops Fetalis

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