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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
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  • iron deficiency
  • chronic kidney disease
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  • cardiac surgery
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  • dna methylation
  • body mass index
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  • hiv testing
  • human immunodeficiency virus