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 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.
journal_name
Hemoglobinjournal_title
Hemoglobinauthors
Li Q,Li Y,Zhong M,Zhang VW,Jin W,Li S,Li Ldoi
10.1080/03630269.2018.1536665subject
Has Abstractpub_date
2018-07-01 00:00:00pages
278-280issue
4eissn
0363-0269issn
1532-432Xjournal_volume
42pub_type
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