Journal article
The prevalence and molecular basis of hemoglobinopathies in Cambodia
Hemoglobin, Vol.30(4), pp.463-470
2006
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 -α 3.7 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 -α 3.7 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.
Details
- Title
- The prevalence and molecular basis of hemoglobinopathies in Cambodia
- Authors/Creators
- B.P. Carnley (Author/Creator)J.F. Prior (Author/Creator)A. Gilbert (Author/Creator)E. Lim (Author/Creator)R. Devenish (Author/Creator)H. Sing (Author/Creator)E. Sarin (Author/Creator)R. Guhadasan (Author/Creator)S.G. Sullivan (Author/Creator)C.A. Wise (Author/Creator)A.H. Bittles (Author/Creator)K. Chan (Author/Creator)M-S Wong (Author/Creator)V. Chan (Author/Creator)W.N. Erber (Author/Creator)
- Publication Details
- Hemoglobin, Vol.30(4), pp.463-470
- Publisher
- Informa Healthcare
- Identifiers
- 991005541241207891
- Copyright
- © Informa Healthcare.
- Murdoch Affiliation
- Murdoch University
- Language
- English
- Resource Type
- Journal article
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- Domestic collaboration
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- Citation topics
- 1 Clinical & Life Sciences
- 1.225 Hematologic Diseases
- 1.225.626 Sickle Cell Disease
- Web Of Science research areas
- Biochemistry & Molecular Biology
- Hematology
- ESI research areas
- Biology & Biochemistry