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Early Onset of Severe Anemia Caused by Hb Calgary ( HBB : C.194G > T): Another Case Report.

Hua JiangDong-Zhi Li
Published in: Hemoglobin (2024)
Unstable hemoglobin (Hb) variants are a rare cause of congenital hemolytic anemia. We describe a Chinese girl who presented with transfusion-dependent anemia in early infancy. Her diagnosis of Hb Calgary [β64(E8)Gly > Val; HBB :c.194G > T] was not made until molecular testing was performed at the age of 5 years. Our case highlights the importance of early genetic testing in order to make the diagnosis, which may not only be useful for patient management and family counseling, but also for avoiding further unnecessary investigative attempts.
Keyphrases
  • early onset
  • case report
  • iron deficiency
  • chronic kidney disease
  • late onset
  • cardiac surgery
  • copy number
  • single molecule
  • gene expression
  • weight gain
  • body mass index
  • physical activity
  • sickle cell disease
  • genome wide