A Second Observation of HB Abruzzo [α2β2143(H21)HIS→ARG] in an Italian Family

Hb Abruzzo was discovered in 1972 by Tentori et al. (1,2) in two brothers from a village in Abruzzo. Both had the compound heterozygosity of this variant and an apparent β o -thalassemia, and suffered from a mild hemolytic anemia, splenomegaly, and erythrocytosis. We recently observed the same variant in a second Italian family, also in association with a β o -thal. The family comes from the village of Troia (Foggia) which is located in the region known as Puglia, and was first studied at the Transfusional Center of Monza Hospital (Milan)