Hemoglobin Roseau‐Pointe a Pitre α2β290 (F6) Glu → Gly: a new hemoglobin variant with slight instability and low oxygen affinity

FEBS Letters

Blouquit, Y.¹  Fortune, R.⁴  Delanoe-Garin, J.¹  Seytor, S.²  Jasmin, K.²  Keclard, L.²  Campier, A.²  Saint-Martin, C.²  Galacteros, F.¹  Arous, N.¹  Merault, G.²  Rosa, J.¹  Theodore, M.³ 

[1] Unité 91 INSERM, Hôpital Henri Mondor, 94010 Creteil, France;Antenne Unité 91 INSERM, Centre Hospitalier Pointe à Pitre-Abymes, 97159 Pointe-à-Pitre, Guadeloupe, French West Indies;Centre PMI Basse-Terre La Guadeloupe, Guadeloupe, French West Indies;Medical Laboratory, Princess Margaret Hospital, Goodwill, Dominica, West Indies

关键词: Hemoglobinopathy;    β variant-Guadeloupe;    β variant-Dominica;    Hb Roseau-Pointe à Pitre Molecular instability;    Low oxygen affinity;    Structural analysis;   

DOI  :  10.1016/0014-5793(85)80642-6

学科分类：生物化学/生物物理

来源: John Wiley & Sons Ltd.

【 摘 要 】

A Dominican neonate carrying a new abnormal hemoglobin, hemoglobin Roseau Pointe-à-Pitre α₂β₂90 (F6) Glu → Gly, was detected in Guadeloupe during application of a cord blood screening program. This variant behaved in isoelectrofocusing as an Hb D, and displayed instability and low whole blood oxygen affinity. In the affected family it was present, either isolated, or in association with a β⁺ thalassemia trait.

【 授权许可】

Unknown