Different geographic origins of Hb Constant Spring [α2 codon 142 TAA→CAA]

C. L. Harteveld, J. Traeger-Synodinos, A. Ragusa, M. Fichera, E. Kanavakis, C. Kattamis, P. Giordano, G. Schilirò, L. F. Bernini

Research output: Contribution to journalArticlepeer-review


Background and Objectives. The occurrence of Hb CS is usually limited to the geographic area which includes Southern China and South East Asia. In 1968 Hb CS was also found to occur in the Mediterranean area where it was originally described as Hb Athens. We investigated the independent origin of these termination codon mutations of the α2-globin gene by determining the α-cluster haplotype and comparing the hematologic data from Hb CS-Hb H patients and their family members. Design and Methods. We studied one Hb CS-Hb H patient of Greek origin and a Sicilian family in which one individual was affected by Hb CS-Hb H. The haplotype of the Hb CS allele was determined and compared to the haplotype of an Hb CS-Hb H individual of Chinese origin. Results. The haplotype found for the Greek and Sicilian Hb CS was the same but differed significantly from the Asiatic Hb CS mutation. Interpretation and Conclusions. The Hb CS mutation found in both Mediterranean patients arose independently in the Mediterranean area. The difference in clinical manifestation of the Hb CS-Hb H disease in both patients is less common but consistent with similar variation in the clinical expression of analogous Hb Icaria-Hb H disease patients.

Original languageEnglish
Pages (from-to)36-38
Number of pages3
Issue number1
Publication statusPublished - 2001


  • α-globin gene mutation
  • Hb CS
  • Hb H disease
  • Hemoglobin
  • Thalassemia

ASJC Scopus subject areas

  • Hematology


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