Article
Diagnosis of a rare fetal haemoglobinopathy in the age of next-generation sequencing.
BMJ case reports - 19 Apr 2016
Hooven Thomas A, Hooper Ellen M, Wontakal Sandeep N, Francis Richard O, Sahni Rakesh, Lee Margaret T
Abstract excerpt
Neonatal cyanosis resulting from a fetal methaemoglobin variant is rare. Most such variants are only described in a few published case reports. We present the case of a newborn with unexplained persistent cyanosis, ultimately determined to have a γ-chain mutation causing Hb FM-Fort Ripley. This neonatal haemoglobinopathy can be challenging to diagnose, as significant oxygen desaturation may result from barely...
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