par Saadi, Hanane 
;Karlin, Sophie ;Barlow, Patricia ;Van Regemorter, Nicole ;Gulbis, Béatrice ;Thomas, Dominique
Référence Journal de gynécologie, obstétrique et biologie de la reproduction, 38, 3, page (258-262)
Publication Publié, 2009-05
;Karlin, Sophie ;Barlow, Patricia ;Van Regemorter, Nicole ;Gulbis, Béatrice ;Thomas, Dominique Référence Journal de gynécologie, obstétrique et biologie de la reproduction, 38, 3, page (258-262)
Publication Publié, 2009-05
Article révisé par les pairs
| Résumé : | Homozygous alpha-thalassaemia or Bart's hydrops fetalis is a genetic disease with autosomal recessive transmission. The condition is lethal for the fetus because of hypoxia and anemia. For the mother there is an increased risk of the severe forms of preeclampsia and its complications. The diagnosis can be suspected in presence of suggestive ultrasonographic anomalies, where both parents come from South-East Asia or China. Confirmation is based on the identification of the typical deletions or mutation of the alpha globin gene by molecular genetics. We report a rare clinical case of Bart's hydrops fetalis diagnosed because of fetal growth retardation, fetal cardiomegaly and increased size of placenta on the 26 weeks fetal echography. This case underscores the need to include the alpha thalassemias in medical and midwifery education in countries where they were almost inexistent a generation ago. |
