Hb Calais [β76(E20)Ala→Pro]: A Family Study of a Variant With Decreased Oxygen Affinity

Valérie Bardet Service d'Hématologie Biologique, Hôpital Cochin, Paris, France

Mircea Adam Service d'Hématologie Biologique, Hôpital d'Enfants Armand Trousseau, Paris, France

Jeanine Yvart Service de Radioisotopes et de Médecine Nucleaire, Hôpital de Bicêtre, Le Kremlin-Bicêtre, France

Henri Wajcman INSERM U654, Hôpital Henri Mondor, Créteil, France

Frédéric Galacteros Unité de Génétique du Globule Rouge, AP-HP, Hôpital Henri Mondor, Créteil, France

Rémi Favier Service d'Hématologie Biologique, Hôpital d'Enfants Armand Trousseau, Paris, FranceCorrespondence[email protected]

Abstract

Secondary to the detection of a chronic anemia with a slightly increased Hb F level in a 7‐year-old boy carrying a hemoglobin (Hb) variant, we investigated the members of his family and found that they were related to the original case of Hb Calais. In the present study, we report the clinical and biological impacts of this Hb variant in various members of three generations of this family.

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Hb Calais [β76(E20)Ala→Pro]: A Family Study of a Variant With Decreased Oxygen Affinity

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Hb Calais [β76(E20)Ala→Pro]: A Family Study of a Variant With Decreased Oxygen Affinity

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