A Rare Hb H Hydrops Fetalis Syndrome Caused by the – –SEA Deletion in Combination with the Rare Hb Hirosaki Mutation in a Chinese Patient. (4th July 2018)

• Record Type: Journal Article
• Authors: Li, Qiang; Li, Yihong; Zhong, Mei; Zhang, Victor Wei; Jin, Wangjie; Li, Shaoyuan; Li, Liyan
• Is Part Of: Hemoglobin. Volume 42:Number 4(2018)
• Page Start: 278
• Page End: 280
• Publication Date: 2018-07-04
• Subjects: Hb H hydrops fetalis syndrome -- Hb Hirosaki -- unstable hemoglobin (Hb); Hemoglobinopathy -- Periodicals; Hemoglobin -- Periodicals; Hematology -- Periodicals; Thalassemia -- Periodicals; Blood -- Diseases -- Periodicals; 612.1111
• DOI: 10.1080/03630269.2018.1536665
• Languages: English
• ISSNs: 0363-0269

Abstract

Abstract: Despite 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>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 α 0 -thalassemia (α 0 -thal) deletion and had a Hb H or Hb Bart's hydrops fetalis offspring, especially if the woman's partner also carried a hemoglobinopathy.