OBJECTIVETo investigate the spectrum of β -thalassemia mutations in Guizhou Province.

METHODSFor 542 individuals suspected to have β -thalassemia by decreased mean corpuscular volume (MCV) and corpuscle hemoglobin (MCH) by routine blood test and hemoglobin electrophoresis, reverse dot blot hybridization (RDB) was performed to detect 17 known β -thalassemia mutations, including 8 common and 9 rare mutations. For cases where no mutation was identified, the entire human β -globin gene was screened to find other rare mutations. The distribution and frequencies of detected β -thalassemia mutations were then analyzed.

RESULTSA total of 460 individuals were diagnosed as β -thalassemia by DNA analysis, which included 352 heterozygotes, 67 compound heterozygotes and 41 mutant homozygotes. A total of 12 β -thalassemia mutations were detected in these individuals. The mutations have ranked from high to low frequency as: CD17 (40.74%), CD41-42 (33.69%), IVS-II-654 (13.76%), -28 (3.70%), β E (3.35%), CD71-72(1.94%), CD43 (1.06%), IVS-I-1 (0.71%), CD27-28 (0.35%), -29(0.35%), CAP (0.18%), and CD121 (0.18%). The former six mutations have accounted for 97.18% of all. CD121 (GAA> TAA) detected from a heterozygote, as a dominant mutation, has been firstly found in the Chinese population.

CONCLUSIONThe spectrum of β -thalassemia in Guizhou Province showed certain distinct characteristics, with CD17 being the most common mutation. The newly discovered mutation of CD121 has expanded the spectrum of β -thalassemia in Chinese population. Our result may provide valuable information for the prevention and control of β -thalassemia in Guizhou.

Adolescent ; Adult ; Asian Continental Ancestry Group ; genetics ; Child ; Child, Preschool ; China ; DNA Mutational Analysis ; Female ; Humans ; Infant ; Leukosialin ; genetics ; Male ; Middle Aged ; Mutation ; Platelet Membrane Glycoprotein IIb ; genetics ; Receptors, Interleukin-1 Type I ; genetics ; Young Adult ; beta-Globins ; genetics ; beta-Thalassemia ; diagnosis ; ethnology ; genetics

Objective To evaluate the application value of high resolution MRI fat suppression T2WI combined with DWI in anal fistula and its activity. Methods We analyzed the clinical data and MRI findings of 59 patients who received high resolution MRI from January 2016 to November 2017. According to the clinical and surgical results,anal fistulas were divided into positive inflammatory activity(PIA)and negative inflammatory activity(NIA). ADC values of anal fistula were measured and the optimal cut-off of ADC values were calculated. Results 59 patients with 71 anal fistulas and 62 internal openings confirmed by surgical results.ADC values were differenct between PIA and NIA anal fistulas(P = 0.001) and the optimal cut-off of ADC value were 1.214. The sensitivity of high resolution MRI fat suppression T2WI,DWI and T2WI combined with DWI for detecting anal fistula and internal opening were 80.28%(57/71),83.10%(59/71),95.77%(68/71) and 82.26%(51/62), 83.87%(52/62),96.77%(60/62),respectively. Conclusion MRI-DWI is very important for evaluating the activities of anal fistula and thigh resolution MRI fat suppression T2WI combined with DWI has the highest sensitivity for detecting anal fistula and internal opening.