Haematologica
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Haematologica, Vol 93, Issue 1, 141-142 doi:10.3324/haematol.11789
Copyright © 2008 by Ferrata Storti Foundation
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Red Cell Disorders

Hb Foggia or {alpha}117(GH5)Phe -> Ser : a new {alpha}2 globin allele affecting the {alpha}Hb-AHSP interaction

Giuseppina Lacerra1,, Clelia Scarano2, Gennaro Musollino1, Angela Flagiello3, Piero Pucci3, Clementina Carestia1

1 Istituto di Genetica e Biofisica "Adriano Buzzati-Traverso"-Consiglio Nazionale delle Ricerche (CNR), Naples
2 Primo Laboratorio Analisi Chimico-cliniche, Azienda Ospedaliero-Universitaria, Foggia
3 Dipartimento di Chimica Organica e Biochimica, Università degli Studi "Federico II", Naples, Italy

Correspondence: Giuseppina Lacerra, Istituto di Genetica e Biofisica "Adriano Buzzati Traverso", CNR, via Pietro Castellino 111, 80131 Naples, Italy. Phone: international +39.081.6132602. Fax: international +39.081.6132602. E-mail: lacerra{at}igb.cnr.it or carestia{at}igb.cnr.it

We report a novel {alpha}2-globin gene allele with the mutation cod 117 TTC>TCC or {alpha}117(GH5)Phe>Ser detected in three carriers with {alpha}-thalassemia phenotype. The mutated mRNA was present in the reticulocytes in the same amount as the normal one, but no chain or hemoglobin variant were detected. Most likely the amino acid substitution impairs the interaction of the {alpha}-chain variant with the AHSP and prevents its stabilizing effect, thus leading to the {alpha}-chain pool reduction.

Key words: {alpha}-thalassemia, Hb Foggia, AHSP, microcytic anemias.




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