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  • 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.
    Author: Li Q, Li Y, Zhong M, Zhang VW, Jin W, Li S, Li L.
    Journal: Hemoglobin; 2018 Jul; 42(4):278-280. PubMed ID: 30486690.
    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.
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