Rare Diseases Symptoms Automatic Extraction

Early Onset of Fetal Hydrops Associated with the α-Thalassemia - -(THAI) Deletion.

[alpha-thalassemia]

Abstract α-Thalassemia (α-thal) is common in southern China. Homozygosity for the --(SEA) (Southeast Asian) α-globin gene deletion is the most common cause of the Hb Bart's (γ4) disease. Occasionally, other α(0)-thal deletions can also be found. In this study, we report a case with an atypical form of Hb Bart's disease. The fetus was a compound heterozygote for the --(SEA) and --(THAI) deletions and presented different clinical features from that of traditional Hb Bart's disease with the --(SEA) deletion in the homozygous state. The early onset of fetal hydrops is attributed to the decreased formation of embryonic Hb Portland (ζ2γ2), which is proposed as a candidate for reactivation in cases of severe α-thal. Our finding may have potentially important implications for clinical decisions in a program using ultrasonography to identify signs of homozygous α(0)-thal.

Diseases presenting "hydrops" symptom

  • alpha-thalassemia
  • congenital diaphragmatic hernia
  • gm1 gangliosidosis
  • neonatal adrenoleukodystrophy
  • pendred syndrome
  • zellweger syndrome

This symptom has already been validated