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Harefuah. 2016 Jan;155(1):24-6, 68.

[BLUE BABY, PINK FUTURE].

[Article in Hebrew]

Abstract

Neonatal cyanosis is relatively common. It is usually a consequence of cyanotic heart disease or a pulmonary disorder, and warrants a thorough and quick investigation. Mutations causing decreased affinity of hemoglobin to oxygen may change α1 to β2 binding. We describe a new mutation (asp 102 serine), in the γ chain of hemoglobin, causing neonatal cyanosis which resolves as the baby matures. In this case we would like to emphasize the importance of early diagnosis in order to avoid unnecessary disease workup.

PMID:
27012070
[Indexed for MEDLINE]

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