Details

Autor(en) / Beteiligte

• Xu, Liang-pu
• Huang, Hai-long
• Wang, Yan
• Zheng, Lin
• Wang, Lin-shuo
• Xu, Jin-bang
• Huang, Xin-xin
• Lin, Yuan

Titel

Molecular epidemiological analysis of α- and β-thalassemia in Fujian province

Ist Teil von

• Zhonghua yi xue yi chuan xue za zhi, 2013-08, Vol.30 (4), p.403

Ort / Verlag

China

Erscheinungsjahr

2013

Quelle

MEDLINE

Beschreibungen/Notizen

• To investigate the gene prevalence and spectrum of alpha- and beta-thalassemia in Fujian province. A total of 11 234 of neonatal cord blood samples were collected for a prevalence study of alpha- and beta-thalassemia. All subjects included in this study were registered in 9 cities of Fujian province. A complete blood count and high performance liquid chromatography (HPLC) were performed in all samples, with microcytosis (MCV≤ 79 f1 and MCH≤ 27 pg) or HPLC positive cases further studied by DNA analysis. alpha- and beta-thalassemia were determined by using gap-PCR and reverse dot blot (RDB) assays. Unknown positive samples were analyzed directly with DNA sequencing. Of all 11 234 cord blood samples, 356 were identified as from alpha-thalassemia gene carriers, 7 deletion genotypes were identified including 236 (--SEA/ α α) cases, 67 (α 3.7/ α α) cases, 24 (alpha 4.2/alpha alpha) cases, 3 (alpha 3.7/ SEA) cases, 1 (alpha 4.2/ SEA) cases, 1 (alpha 3.7/ alpha 3.7) cases, 1 (alpha 3.7/ alpha 4.2) cases; 3 non-deleti