TY - JOUR
T1 - The prevalence and molecular basis of hemoglobinopathies in Cambodia
AU - Carnley, Benedict P.
AU - Prior, John F.
AU - Gilbert, Anne
AU - Lim, Erna
AU - Devenish, Robyn
AU - Sing, Heng
AU - Sarin, Eng
AU - Guhadasan, Rathi
AU - Sullivan, Sheena G.
AU - Wise, Cheryl A.
AU - Bittles, Alan H.
AU - Chan, Kaimin
AU - Wong, Man Sim
AU - Chan, Vivian
AU - Erber, Wendy N.
PY - 2006/12/1
Y1 - 2006/12/1
N2 - 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, 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 -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.
AB - 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, 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 -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.
KW - α-Thalassemia (thal)
KW - β-Thalassemia (thal)
KW - Cambodia
KW - Hemoglobinopathies
UR - http://www.scopus.com/inward/record.url?scp=33748939066&partnerID=8YFLogxK
U2 - 10.1080/03630260600868071
DO - 10.1080/03630260600868071
M3 - Article
C2 - 16987801
AN - SCOPUS:33748939066
VL - 30
SP - 463
EP - 470
JO - Hemoglobin
JF - Hemoglobin
SN - 0363-0269
IS - 4
ER -