First Report of a Novel Deletion Due to εγδβ-Thalassemia in a Chinese Family
Publication in refereed journal

Times Cited
Altmetrics Information

Other information
AbstractA fetus of Chinese descent presented with ultrasound features of anemia at 20 weeks’ gestation. Father had low a mean corpuscular volume (MCV) level. Multiplex gap-polymerase chain reaction (gap-PCR) excluded common α-thalassemia (α-thal) deletions and mutations and PCR sequencing of the α1- and α2-globin genes were negative. The fetus had a normal karyotype. Array comparative genomic hybridization (aCGH) showed a single copy loss of 189.87 kb in chromosome 11p15.4, involving the whole β-globin gene cluster, inherited from the father. Multiplex ligation-dependent probe amplification (MLPA) confirmed the deletion included the ε-globin gene, confirming the diagnosis of heterozygous (εγδβ)0-thalassemia [(εγδβ)0-thal], also inherited from the father. The fetus had a worsening anemic condition in utero and required a transfusion at 26 weeks’ gestation, raising the hemoglobin (Hb) level from 5.3 to 12.6g/dL. A cesarean-section was subsequently performed at 32 weeks’ gestation because of reduced fetal movements, and a 1650g baby girl with good Apgar scores was delivered. Hemoglobin at birth was 12.8g/dL, gradually dropping to 6.8 g/dL, requiring three neonatal transfusions. Her condition gradually stabilized after 2 months with Hb stable at 8.0 g/dL. Family screening by MLPA showed that the paternal grandmother carried the same deletion. The deletion in this case is distinct and is the reported first case. The deletion transmitted across three successive generations with great phenotypic variation. The final adult phenotype of (εγδβ)0-thal is usually mild, therefore, with accurate prenatal diagnosis this condition is salvageable by in utero and early neonatal transfusions, preventing adverse pregnancy and neonatal outcomes.
Acceptance Date24/07/2017
All Author(s) ListHui Annie S.Y., Au Patrick K.C., Ting Yuen-Ha, Kan Anita S.Y., Cheng Yvonne K.Y., Leung Alex W.K., Chan Kelvin Y.K., Li Chi-Kong, Tang Mary H.Y., Leung Tak-Yeung
Journal nameHemoglobin
Volume Number41
Issue Number3
PublisherTaylor & Francis
Place of PublicationUSA
Pages175 - 179
LanguagesEnglish-United States
KeywordsChinese, εγδβ-thalassemia (εγδβ-thal), fetal anemia, neonatal anemia, transfusion

Last updated on 2022-15-01 at 23:20