HB sassari or α2126(h9)ASP→HISfβ2 observed in a family from northern sardinia

B. Masala, L. Manca, A. Stangoni, G. B. Cuccuru, J. B. Wilson, B. B. Webber, A. Kutlar, T. H.J. Huisman

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Abstract

During a recent survey of hemoglobin (Hb) abnormalities among the population of Northern Sardinia, we observed an electrophoretically slow-moving variant in two brothers. The abnormal Hb could be detected by cellulose acetate electrophoresis at pH 8.9 (it moved like Hb F), by citrate agar electrophoresis at pH 6.1 (it moved like Hb C), and by isoelectricfocusing (IEF) where it moved between Hb F and Hb G-Philadelphia (Fig. 1) (see Refs. 1 and 2 for methodologies). Quantitation by densitometric scanning of the IEF gels gave the following percentages for the two brothers: 24.5 and 23.6% Hb X, and 0.6 and 0.6% Hb X2. In one person Hb X was quantitated by DEAE Sephadex chromatography (5); its value was 21.4% The aX chain also readily separated from the normal α chain by polyacrylamide gel electrophoresis (PAGE) (3) (Fig. 2) and by reverse phase high performance liquid chromatography (HPLC) (4); the values for the two brothers were 21.9 and 21.7% respectively (Fig. 3). Hematological data showed a distinct erythrocytosis with slight microcytosis in both brothers (Table I).

Original languageEnglish (US)
Pages (from-to)373-378
Number of pages6
JournalHemoglobin
Volume11
Issue number4
DOIs
Publication statusPublished - Jan 1 1987

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ASJC Scopus subject areas

  • Hematology
  • Clinical Biochemistry
  • Genetics(clinical)
  • Biochemistry, medical

Cite this

Masala, B., Manca, L., Stangoni, A., Cuccuru, G. B., Wilson, J. B., Webber, B. B., ... Huisman, T. H. J. (1987). HB sassari or α2126(h9)ASP→HISfβ2 observed in a family from northern sardinia. Hemoglobin, 11(4), 373-378. https://doi.org/10.3109/03630268709042855