title: The prevalence and molecular basis of hemoglobinopathies in Cambodia.
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. 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.
authors.affiliation: Western Australian Centre for Pathology and Medical Research, Perth, Western Australia.
authors.forename: Benedict P
authors.initials: BP
authors.lastname: Carnley
authors.forename: John F
authors.initials: JF
authors.lastname: Prior
authors.forename: Anne
authors.initials: A
authors.lastname: Gilbert
authors.forename: Erna
authors.initials: E
authors.lastname: Lim
authors.forename: Robyn
authors.initials: R
authors.lastname: Devenish
authors.forename: Heng
authors.initials: H
authors.lastname: Sing
authors.forename: Eng
authors.initials: E
authors.lastname: Sarin
authors.forename: Rathi
authors.initials: R
authors.lastname: Guhadasan
authors.forename: Sheena G
authors.initials: SG
authors.lastname: Sullivan
authors.forename: Cheryl A
authors.initials: CA
authors.lastname: Wise
authors.forename: Alan H
authors.initials: AH
authors.lastname: Bittles
authors.forename: Kaimin
authors.initials: K
authors.lastname: Chan
authors.forename: Man-Sim
authors.initials: MS
authors.lastname: Wong
authors.forename: Vivian
authors.initials: V
authors.lastname: Chan
authors.forename: Wendy N
authors.initials: WN
authors.lastname: Erber
mesh_terms: D000293:Adolescent; D001772:Blood Cell Count; D002160:Cambodia / Q000453:epidemiology; D002648:Child; D002675:Child, Preschool; D002851:Chromatography, High Pressure Liquid; D003430:Cross-Sectional Studies; D005260:Female; D005914:Globins / Q000235:genetics*; D006446:Hemoglobin E / Q000235:genetics; D006455:Hemoglobins, Abnormal / Q000235:genetics; D006801:Humans; D007223:Infant; D008297:Male; D016133:Polymerase Chain Reaction; D015995:Prevalence; D017422:Sequence Analysis, DNA; D017085:alpha-Thalassemia / Q000453:epidemiology / Q000235:genetics*; D017086:beta-Thalassemia / Q000453:epidemiology / Q000235:genetics*
chemical_list: D006455:Hemoglobins, Abnormal; D005914:Globins; D006446:Hemoglobin E; C035541:Hemoglobin Constant Spring