A Rare Hb H Hydrops Fetalis Syndrome Caused by the - -SEA Deletion in Combination with the Rare Hb Hirosaki Mutation in a Chinese Patient. Li, Q., Li, Y., Zhong, M., Mei Zhong, Zhang, V. W., Jin, W., Li, S., & Li, L. Hemoglobin, 42(4):278–280, November, 2018. MAG ID: 2903207489doi abstract bibtex AbstractDespite the milder clinical severity of Hb H patients compared with those of Hb Bart’s hydrops fetalis or patients with β-thalassemia major (β-TM), a few cases of Hb H hydrops fetalis syndrome have been reported so far. Here, we describe, for the first time in the Chinese population, one case of a neonate with Hb H hydrops fetalis syndrome caused by the – –SEA (Southeast Asian) deletion in combination with the Hb Hirosaki (HBA2: c.132C\textgreaterG, p.Phe43Leu) mutation. Our study highlights the importance of continuous fetal monitoring using ultrasonography and blood screening studies of fetuses. Appropriate genetic counseling and comprehensive clinical follow-up should be performed on a pregnant woman who carried an α0-thalassemia (α0-thal) deletion and had a Hb H or Hb Bart’s hydrops fetalis offspring, especially if the woman’s partner also carried a hemoglobinopathy.
@article{li_rare_2018,
title = {A {Rare} {Hb} {H} {Hydrops} {Fetalis} {Syndrome} {Caused} by the - -{SEA} {Deletion} in {Combination} with the {Rare} {Hb} {Hirosaki} {Mutation} in a {Chinese} {Patient}.},
volume = {42},
doi = {10.1080/03630269.2018.1536665},
abstract = {AbstractDespite the milder clinical severity of Hb H patients compared with those of Hb Bart’s hydrops fetalis or patients with β-thalassemia major (β-TM), a few cases of Hb H hydrops fetalis syndrome have been reported so far. Here, we describe, for the first time in the Chinese population, one case of a neonate with Hb H hydrops fetalis syndrome caused by the – –SEA (Southeast Asian) deletion in combination with the Hb Hirosaki (HBA2: c.132C{\textgreater}G, p.Phe43Leu) mutation. Our study highlights the importance of continuous fetal monitoring using ultrasonography and blood screening studies of fetuses. Appropriate genetic counseling and comprehensive clinical follow-up should be performed on a pregnant woman who carried an α0-thalassemia (α0-thal) deletion and had a Hb H or Hb Bart’s hydrops fetalis offspring, especially if the woman’s partner also carried a hemoglobinopathy.},
number = {4},
journal = {Hemoglobin},
author = {Li, Qiang and Li, Yihong and Zhong, Mei and {Mei Zhong} and Zhang, Victor Wei and Jin, Wangjie and Li, Shaoyuan and Li, Liyan},
month = nov,
year = {2018},
doi = {10.1080/03630269.2018.1536665},
note = {MAG ID: 2903207489},
pages = {278--280},
}
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