The prevalence and molecular basis of hemoglobinopathies in Cambodia

Benedict P. Carnley, John F. Prior, Anne Gilbert, Erna Lim, Robyn Devenish, Heng Sing, Eng Sarin, Rathi Guhadasan, Sheena G. Sullivan, Cheryl A. Wise, Alan H. Bittles, Kaimin Chan, Man Sim Wong, Vivian Chan, Wendy N. Erber

Research output: Contribution to journalArticlepeer-review

33 Citations (Scopus)


Blood counts, hemoglobin (Hb) high performance liquid chromatography (HPLC), and DNA analyses were performed on 260 children, aged 5 months to 16 years, at Siem Reap to assess the prevalence of thalassemia and other hemoglobinopathies in regional Cambodia. Hemoglobinopathies were present in 134 children (51.5%) with 20 abnormal genotypes identified. α-Thalassemia (thal) (35.4%) was the most prevalent disorder and the -α3.7 gene deletion was the most common α-globin gene abnormality. The - - SEA deletion and nondeletional forms of α-thal, Hb Constant Spring [Hb CS, α142, Term→Gln, TA→CAA (α2)], Hb Paksé [α142, Term→Tyr, TAA→TAT (α2)] and triplicated α genes, were also present but at low frequencies. Hb E [β26(B8)Glu→Lys, GAG→AAG] (28.8%) was the most common β-globin gene abnormality, whilst β-thal was only detected in two children (0.8% of cases). Although hemoglobinopathies were common, the majority of abnormalities detected (heterozygous -α3.7 and Hb E) were not clinically significant. On the basis of these findings, and with the majority of abnormalities being mild, it seems improbable that thalassemia represents a major health burden in this region of Cambodia.

Original languageEnglish
Pages (from-to)463-470
Number of pages8
Issue number4
Publication statusPublished - 1 Dec 2006
Externally publishedYes


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