The prevalence and molecular basis of hemoglobinopathies in Cambodia.
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.
Carnley
Benedict P
BP
Western Australian Centre for Pathology and Medical Research, Perth, Western Australia.
Prior
John F
JF
Gilbert
Anne
A
Lim
Erna
E
Devenish
Robyn
R
Sing
Heng
H
Sarin
Eng
E
Guhadasan
Rathi
R
Sullivan
Sheena G
SG
Wise
Cheryl A
CA
Bittles
Alan H
AH
Chan
Kaimin
K
Wong
Man-Sim
MS
Chan
Vivian
V
Erber
Wendy N
WN
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*
D006455:Hemoglobins, Abnormal; D005914:Globins; D006446:Hemoglobin E; C035541:Hemoglobin Constant Spring