Identification of Hb J-Sardegna [alpha 50(CE8)His----Asp] by HPLC and its incidence in northern Sardinia

Hemoglobin. 1989;13(1):33-44. doi: 10.3109/03630268908998051.

Abstract

As many as 7,717 babies born consecutively and 3,412 blood donors of Sardinian ancestry have been examined for the detection of the Hb J-Sardegna variant [alpha 50(CE8)His----Asp]; all subjects were from Northern Sardinia. Hemolysates were analyzed by isoelectricfocusing and the identification of the variant was made by reversed phase high performance liquid chromatography of the tryptic peptides. A total of 28 carriers (1:397) of Hb J-Sardegna were identified. The incidence of 0.25% makes this hemoglobin one of the most common alpha-globin structural mutants in humans. The distribution of the anomaly appears to be nonhomogeneous in the island. The quantity of the variant ranged from 19 to 36%; this wide range probably reflects the co-inheritance of an alpha-thalassemia anomaly.

MeSH terms

  • Adult
  • Blood Donors
  • Chromatography, High Pressure Liquid
  • Genetics, Population
  • Hemoglobin J / isolation & purification*
  • Hemoglobins, Abnormal / isolation & purification*
  • Humans
  • Infant
  • Infant, Newborn
  • Isoelectric Focusing
  • Italy
  • Mutation

Substances

  • Hemoglobins, Abnormal
  • Hemoglobin J Sardegna
  • Hemoglobin J