Akbarova G
Tsitol Genet. 2015 May-Jun;49(3):40-4.
The hematological and molecular-genetics analyses of patients with suspected β-thalassemia were done by the RDBH StripAssay. The complete blood evaluation (HB, MCH, MCV, MCHC, RBC, Hct, HbA2, HbF), monitoring of serum iron and ferritin, molecular analysis--RDBH (Reverse Dot-Blot Hybridization StripAssay) were done. Two persons were carriers of the beta-thalassemic trait as β+ thalassemia minor IVS1-5(G > > C)/wt. Mutation IVS1-5 (G > C) in the compound with a mutation IVS1-110 (G > A) or mutation IVS1-6 (T > C) determines the development of β-thalassemia intermedia. RDBH-method is easy and economical method in molecular diagnosis of β-thalassemia, if hematological parameters are incorrect.
对疑似β地中海贫血患者进行血液学和分子遗传学分析采用RDBH条带分析法。进行了全血细胞评估（血红蛋白、平均红细胞血红蛋白含量、平均红细胞体积、平均红细胞血红蛋白浓度、红细胞计数、血细胞比容、血红蛋白A2、血红蛋白F）、血清铁和铁蛋白监测以及分子分析——RDBH（反向斑点杂交条带分析法）。有两人为β地中海贫血特征携带者，即轻度β+地中海贫血IVS1-5（G＞＞C）/野生型。IVS1-5（G＞C）突变与IVS1-110（G＞A）突变或IVS1-6（T＞C）突变复合时，可导致中间型β地中海贫血的发生。如果血液学参数不正确，RDBH法是β地中海贫血分子诊断中简便且经济的方法。
