Title

The prevalence and molecular basis of hemoglobinopathies in Cambodia

Document Type

Journal Article

Publisher

Taylor and Francis

Faculty

Computing, Health and Science

School

Computing, Health and Science

RAS ID

4988

Comments

This article was originally published as: Carnley, B. P., Prior, J. F., Gilbert, A., Lim, E., Devenish, R., Sing, H., ... & Bittles, A. H. (2006). The prevalence and molecular basis of hemoglobinopathies in Cambodia. Hemoglobin, 30(4), 463-470. Original available here

Abstract

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, TAA→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.

DOI

10.1080/03630260600868071

 

Link to publisher version (DOI)

10.1080/03630260600868071