ClinVar Miner

Submissions for variant NM_000518.4(HBB):c.110C>A (p.Pro37His) (rs33993004)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Unidade de Eritropatologia e Metabolismo do Ferro,Centro Hospitalar e Universitário de Coimbra RCV001029750 SCV001142667 pathogenic Erythrocytosis 6, familial 2020-01-14 criteria provided, single submitter in vivo The mutation CCT-CAT at codon 37 leads to the replacement of a proline residue by a histidine in the a1b2 contact of the Hb molecule and represents an important structural change causing a decreased molecular stability. This would predictably shift the equilibrium between deoxy-Hb and oxy-Hb slightly towards the oxy-Hb form. The oxygen equilibrium, measured with an automatic oxygenation apparatus was shifted leftward and the P50 was 17.0 mmHg (normal 26-27 mmHg) confirming a Hb with higher oxygen affinity than normal. This was the first observation of this hemoglobin variant that has been named Hb Vila Real after the city of the carrier place of birth. Hb Vila Real b36 (C2) Pro>His is the forth abnormal Hb found with an amino acid substitution at position 37 of the b-chain. The other three variants, Hb Linkoping, Hb North Chicago and Hb Sunnybrook also have increased oxygen affinity.
OMIM RCV000016845 SCV000037115 other HEMOGLOBIN VILA REAL 2017-12-12 no assertion criteria provided literature only

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