A novel epsilon gamma delta beta thalassemia presenting with pregnancy complications and severe neonatal anemia

Objective The epsilon gamma delta beta (εγδβ)‐thalassemias are rare sporadic disorders caused by deletion of the β‐globin gene cluster. The main clinical feature is marked prenatal and neonatal anemia that resolves spontaneously within a few months. Reports originating mainly from Europe have so far...

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Veröffentlicht in:	European journal of haematology 2013-02, Vol.90 (2), p.127-133
Hauptverfasser:	Shalev, Hanna, Landau, Daniela, Pissard, Serge, Krasnov, Tanya, Kapelushnik, Joseph, Gilad, Oded, Broides, Arnon, Dgany, Orly, Tamary, Hannah
Format:	Artikel
Sprache:	eng
Schlagworte:	Adolescent Adult Anemia, Neonatal - diagnosis Anemia, Neonatal - genetics Anemia, Neonatal - physiopathology Anemia, Neonatal - therapy Arabs beta-Globins - genetics Erythrocyte Transfusion Female Fetal Growth Retardation - diagnosis Fetal Growth Retardation - genetics Fetal Growth Retardation - pathology Fetal Growth Retardation - physiopathology Fetal Growth Retardation - therapy Humans Hypertension, Pulmonary - diagnosis Hypertension, Pulmonary - genetics Hypertension, Pulmonary - pathology Hypertension, Pulmonary - physiopathology Hypertension, Pulmonary - therapy INDEL Mutation Infant Infant, Newborn Infant, Premature Male microcytosis Multigene Family Multiplex Polymerase Chain Reaction neonatal anemia oligohydramnios Oligohydramnios - diagnosis Oligohydramnios - genetics Oligohydramnios - pathology Oligohydramnios - physiopathology Oligohydramnios - therapy Pregnancy primary pulmonary hypertension Thalassemia - classification Thalassemia - diagnosis Thalassemia - genetics Thalassemia - pathology Thalassemia - physiopathology Thalassemia - therapy εγδβ-thalassemia
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