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.

译文

在暹粒对260名5个月至16岁的儿童进行了血液计数,血红蛋白 (Hb) 高效液相色谱 (HPLC) 和DNA分析,以评估柬埔寨地区地中海贫血和其他血红蛋白病的患病率。134名儿童 (51.5% 名) 存在血红蛋白病,发现20种异常基因型。Α-地中海贫血 (thal) (35.4%) 是最普遍的疾病,而-α3.7基因缺失是最常见的 α-珠蛋白基因异常。Α-thal,Hb恒春 [Hb CS,alpha142,Term->Gln,TAA->CAA (alpha2)],Hb paks é [alpha142,Term->Tyr,TAA->TAT (alpha2)] 和三重 α 基因,也存在,但频率较低。Hb E [beta26(B8)Glu->Lys,GAG->AAG] (28.8%) 是最常见的 β-珠蛋白基因异常,而 β-thal仅在两个儿童中检测到 (0.8% 的病例)。尽管血红蛋白病很常见,但检测到的大多数异常 (杂合-α3.7和Hb E) 在临床上并不显着。根据这些发现,并且大多数异常是轻度的,地中海贫血似乎是柬埔寨该地区的主要健康负担。

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