A NEW SILENT β CHAIN VARIANT: Hb HOUNSLOW [β 80(EF4)Asn→Tyr]
Préhu C1,2, Riou J2, Henthorn J3, Wajcman H1,2*
*Corresponding Author: Dr. Henri Wajcman, INSERM U841 eq 11, Hôpital Henri Mondor, 94010 Créteil, France; Tel.: +33(0)1-49-81-35-78; Fax: +31(0)148-99-33-45; E-mail: Henri.Wajcman@im3.inserm.fr
page: 29

INTRODUCTION

Rare, or new, hemoglobin (Hb) variants, are regularly found during systematic programs of neonatal screening for the main hemoglobinopathies. Since such variants may cause hematological disorders or act as genetic modifiers of thalassemias or of sickle cell anemias, their structural characterization is important. We report here on a new variant found in a newborn baby originating from Afghanistan, a country where several thalassemia mutations are present [1-3].

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             1 INSERM, U 841, Créteil, France

2 Service de Biochimie, Hôpital Henri Mondor AP-HP, 94010 Créteil, France

3 Department of Haematology, Central Middlesex Hospital, London, UK




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