Blood Res.  2020 Sep;55(3):177-180. 10.5045/br.2020.2020084.

Hb-M Hyde Park: a rare cause of cyanosis arising from a de novo mutation

• Rastogi L
• Langer R
• Radhakrishnan N
• Saxena R
• Kotwal J

• KMID: 2507059
• DOI: http://doi.org/10.5045/br.2020.2020084

Abstract

No abstract available.

Figure

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  Fig. 1 (A) Photograph of the child showing bluish discoloration of lips. (B) Anti coagulated venous blood sample of patient (B, right) shows distinct brown color as compared to the normal blood sample (B, left).

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  Fig. 2 (A) HPLC showing an abnormal hemoglobin peak at C-window and retention time 5.06 mins. (B) Chromatogram of HBB gene by Sanger sequencing showing patient being heterozygous for HBB:c.277C>T [beta92(F8) His>Tyr] and both parents negative, indicating de novo origin in child.

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