The prevalence and molecular basis of hemoglobinopathies in Cambodia

Hemoglobin. 2006;30(4):463-70. doi: 10.1080/03630260600868071.


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. alpha-Thalassemia (thal) (35.4%) was the most prevalent disorder and the -alpha3.7 gene deletion was the most common alpha-globin gene abnormality. The - -SEA deletion and nondeletional forms of alpha-thal, Hb Constant Spring [Hb CS, alpha142, Term-->Gln, TAA-->CAA (alpha2)], Hb Paksé [alpha142, Term-->Tyr, TAA-->TAT (alpha2)] and triplicated alpha genes, were also present but at low frequencies. Hb E [beta26(B8)Glu-->Lys, GAG-->AAG] (28.8%) was the most common beta-globin gene abnormality, whilst beta-thal was only detected in two children (0.8% of cases). Although hemoglobinopathies were common, the majority of abnormalities detected (heterozygous -alpha3.7 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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Blood Cell Count
  • Cambodia / epidemiology
  • Child
  • Child, Preschool
  • Chromatography, High Pressure Liquid
  • Cross-Sectional Studies
  • Female
  • Globins / genetics*
  • Hemoglobin E / genetics
  • Hemoglobins, Abnormal / genetics
  • Humans
  • Infant
  • Male
  • Polymerase Chain Reaction
  • Prevalence
  • Sequence Analysis, DNA
  • alpha-Thalassemia / epidemiology
  • alpha-Thalassemia / genetics*
  • beta-Thalassemia / epidemiology
  • beta-Thalassemia / genetics*


  • Hemoglobins, Abnormal
  • Globins
  • Hemoglobin E
  • Hemoglobin Constant Spring