HB Abruzzo [β143(H21)HIS→ARG] Identified by Mass Spectrometry and DNA Analysis

Association of a high oxygen affinity hemoglobin Abruzzo with HbS: first family study from Central India

“…Hb Abruzzo gives elution peak in A2 window on HPLC [13]. Mosca et al reported a case of Hb Abruzzo in which electrophoretic study showed an abnormal band slightly more cathodic than F [3]. In the absence of P50 values, as with patients in this study, we confirmed variants by sequencing the HBB gene, which gave the definitive diagnosis of Hb Abruzzo(Cd143 His ?…”

“…tetramer somewhat toward the high-affinity 'R' conformation characteristic of ligand hemoglobin [2,3]. It has increased oxygen affinity and reduced heme-heme interaction in the absence of organic or inorganic phosphate cofactors.…”

Homozygous Hemoglobin Abruzzo in a North American Child

“…It was originally described by Tentori et al in 1972 in an Italian patient from the small town of Abruzzo in Italy, who also had apparent b 0 -thalassemia, with elevated HbA 2 , splenomegaly, and erythrocytosis. 5 This patient was from the region of Molise in Italy, which is exactly halfway between Abruzzo and Puglia, showing geographic contiguity of all three cases and suggesting a single origin of the mutation. The second family was reported by Zhao et al in 1990 from the region of Puglia in Italy.…”

Haemoglobin Noah Mehmet Oeztuerk (α2 δ2143 (H21)His→Tyr: A novel δ-chain variant in the 2,3-DPG binding site

“…In this study we describe the characterization of a novel variant in which His is replaced by Tyr at or ␦143 (H21). The first ␦-variant with the substitution at 143 (H21) corresponds to that found in Hb A 2 Abruzzo or ␦143 (H21) His → Arg, which was recently described in Italian patients [7] and is homologous to that of the ß-chain, Hb Abruzzo [8][9][10]. Because Hb A 2 represents only a minor portion of the total haemoglobin, ␦-variants are of little clinical importance.…”