Literature DB >> 24051347

Two unusual cases of haemoglobin Bart's hydrops fetalis due to uniparental disomy or non-paternity.

K O Kou1, Helena Lee, Betty Lau, W S Wong, Anita Kan, Mary Tang, Elizabeth T Lau, C F Poon, K Y Leung.   

Abstract

The authors present 2 unusual cases of haemoglobin (Hb) Bart's hydrops fetalis and highlight the problem of a screening system for α-thalassaemia which focuses on maternal and paternal mean corpuscular volume (MCV) alone. Normal paternal MCV may not preclude fetal Hb Bart's disease because of the rare occurrence of maternal uniparental disomy or non-paternity. During a mid-trimester anomaly scan, with fetal cardiomegaly or hydrops in a woman with low MCV but normal paternal MCV, obstetricians should remain alert for fetal Hb Bart's disease. This is very important and relevant for national screening systems in South-East Asia, where a routine mid-trimester scan may not be available. A routine mid-trimester anomaly scan should therefore be implemented and in high prevalence areas, sonographers should be sensitive to the cardio-thoracic ratio even if screening shows that pregnancy is unlikely to be at risk.
© 2013 S. Karger AG, Basel.

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Year:  2013        PMID: 24051347     DOI: 10.1159/000354808

Source DB:  PubMed          Journal:  Fetal Diagn Ther        ISSN: 1015-3837            Impact factor:   2.587


  4 in total

Review 1.  An international registry of survivors with Hb Bart's hydrops fetalis syndrome.

Authors:  Duantida Songdej; Christian Babbs; Douglas R Higgs
Journal:  Blood       Date:  2017-01-05       Impact factor: 22.113

2.  Severe nondominant hereditary spherocytosis due to uniparental isodisomy at the SPTA1 locus.

Authors:  Hannah Bogardus; Vincent P Schulz; Yelena Maksimova; Barbara A Miller; Peining Li; Bernard G Forget; Patrick G Gallagher
Journal:  Haematologica       Date:  2014-06-03       Impact factor: 9.941

3.  Whole-genome array CGH evaluation for replacing prenatal karyotyping in Hong Kong.

Authors:  Anita S Y Kan; Elizabeth T Lau; W F Tang; Sario S Y Chan; Simon C K Ding; Kelvin Y K Chan; C P Lee; Pui Wah Hui; Brian H Y Chung; K Y Leung; Teresa Ma; Wing C Leung; Mary H Y Tang
Journal:  PLoS One       Date:  2014-02-05       Impact factor: 3.240

4.  Characterisation of two unusual cases of haemoglobin Bart's hydrops foetalis caused by -SEA and large novel α-globin gene cluster deletions.

Authors:  Yunan Wang; Ying Xiong; Chang Liu; Jian Lu; Jicheng Wang; DanQing Qin; Ling Liu; Jing Wu; Xin Zhao; Liyuan Fang; Li Du; Aihua Yin
Journal:  J Int Med Res       Date:  2021-02       Impact factor: 1.671

  4 in total

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