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, Abdullah Kutlar, T. H J Huisman

Research output: Contribution to journalComment/debate

13 Citations (Scopus)

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
StatePublished - Jan 1 1987

Fingerprint

Italy
Hemoglobins
Electrophoresis
Fetal Hemoglobin
Hemoglobin C
Cellulose Acetate Electrophoresis
Abnormal Hemoglobins
DEAE-Dextran
Polycythemia
High performance liquid chromatography
Reverse-Phase Chromatography
Chromatography
Citric Acid
Agar
Polyacrylamide Gel Electrophoresis
Gels
High Pressure Liquid Chromatography
Scanning
Population

ASJC Scopus subject areas

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

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

HB sassari or α2126(h9)ASP→HISfβ2 observed in a family from northern sardinia. / Masala, B.; Manca, L.; Stangoni, A.; Cuccuru, G. B.; Wilson, J. B.; Webber, B. B.; Kutlar, Abdullah; Huisman, T. H J.

In: Hemoglobin, Vol. 11, No. 4, 01.01.1987, p. 373-378.

Research output: Contribution to journalComment/debate

Masala, B, Manca, L, Stangoni, A, Cuccuru, GB, Wilson, JB, Webber, BB, Kutlar, A & Huisman, THJ 1987, 'HB sassari or α2126(h9)ASP→HISfβ2 observed in a family from northern sardinia', Hemoglobin, vol. 11, no. 4, pp. 373-378. https://doi.org/10.3109/03630268709042855
Masala B, Manca L, Stangoni A, Cuccuru GB, Wilson JB, Webber BB et al. HB sassari or α2126(h9)ASP→HISfβ2 observed in a family from northern sardinia. Hemoglobin. 1987 Jan 1;11(4):373-378. https://doi.org/10.3109/03630268709042855
Masala, B. ; Manca, L. ; Stangoni, A. ; Cuccuru, G. B. ; Wilson, J. B. ; Webber, B. B. ; Kutlar, Abdullah ; Huisman, T. H J. / HB sassari or α2126(h9)ASP→HISfβ2 observed in a family from northern sardinia. In: Hemoglobin. 1987 ; Vol. 11, No. 4. pp. 373-378.
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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).",
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AU - Masala, B.

AU - Manca, L.

AU - Stangoni, A.

AU - Cuccuru, G. B.

AU - Wilson, J. B.

AU - Webber, B. B.

AU - Kutlar, Abdullah

AU - Huisman, T. H J

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N2 - 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).

AB - 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).

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