ABSTRACT
Objective To investigate the genetic carrier rate of thalassemia and its gene mutation types as well as the distribution characteristics among couples of reproductive age in Dongfang City of Hainan Province,and to provide a basis for making prevention and control strategies against thalassemia.Methods Samples were collected from 1 000 couples undergoing premarital and pregestational screenings for thalassemia in Dongfang City of Hainan Province from September 2012 to March 2013,in which the positive ones in preliminary screening were further tested by genetic diagnoses and the genotypes were retrospectively analyzed.Results Among 1 000 couples,322 spouses were diagnosed with thalassemia gene mutation and the carrying rate was 16.10％ (322/2 000).In those carriers,246 spouses were α-thalassemia and the carrying rate was 12.30％ (246/2 000),accounting for 76.40％(246/322) of all thalassemia carriers,among them,there were 197 cases of α-deficiency genotype,accounting for 61.18％ (197/322),32 carried mutated α-gene,accounting for 9.94％ (32/322),17 carried both deleted and mutated α-gene,accounting for 5.28％ (17/322);43 spouse were β-thalassemia and the carrying rate was 2.15％(43/2 000);33 spouse were both α-and β-thalassemia and the carrying rate was 1.65％ (33/2 000).In spouses diagnosed with α-thalassemia,the major genotype was-α37/αα,accounting for 19.25％ (62/322);the second ranked was-α4.2/αα,accounting for 17.70％ (57/322),and the third ranked was--SEA/αα,accounting for 8.70％ (28/322).In spouses diagnosed with β-thalassemia,the major genotype was CD41-42/N,accounting for 9.63％ (31/322).Conclusions The population carrying rate of thalassemia in Dongfang City of Hainan Province is high,and its major type is α-thalassemia.For the purpose of decreasing the birth rate of thalassemia,major,local public health department should attach great importance to thalassemia prevention,and strengthen premarital and pregestational screening for thalassemia.
ABSTRACT
Objective To investigate the neonatal genetic carrier rate and genotype composition of thalassemia in Haikou city,and to evaluate the application of using dried blood spot specimens of neonates for population screening of thalassemia.Methods From January 2016 to December 2016,25% to 50% of all dried blood spot specimens of registered neonates were collected randomly by mechanical samping method in 30 hospitals of Haikou city everyday.Total of 6 864 samples were primarily analyzed by hemoglobin electrophoresis,and those with positive results were secondarily recalled for venous blood collection and subsequent genotyping tests.Feasibility of using neonatal dried blood spot specimens for population screening of thalassemia was retrospectively analyzed.Results A total of 6 864 neonatal dried blood spot specimens were analyzed.Out of 604 positive samples primarily screened by Hb electrophoresis, the positive rate was 8.80%,343 samples carried thalassemia gene mutations secondarily confirmed by genotyping test, the carrying rate was 5%(343/6 864),among which 81.92 %(281/343)were α-thalassemia,16.62%(57/343)were β-thalassemia and 1.46%(5/343)were both α-and β-thalassemia.In those α-thalassemia,the deleted α-gene types occupied 89.68%(252/281),the major genotype was --SEA/αα; the mutated α-gene types occupied 4.98%(14/281),the major genotype was αQS α/αα.In those β-thalassemia,there were 9 genotypes,the major genotype was CD41-42/N, occupying 61.40%(35/57).Conclusions The neonates have a relatively high carrying rate of thalassemia gene mutations in Haikou city, the genotype composition has geographical characteristics,and the major type is α-thalassemia.The method of using heel dried blood spot specimens on filter paper to screen thalassemia among neonates is advantageous and worthy of advocation.
ABSTRACT
Objective To analyze the clinical features of Weber-Christian disease (WCD) and to make a review of the literature for early diagnosis and treatment.Methods The clinical features of an atypical WCD patient who had been misdiagnosed as polymyositis were analyzed.Results WCD was characterized by subcutaneous nodules and systemic symptoms.Repeating physical examination and biopsy in time were important if the nodules were not obvious.Conclusion WCD is often misdiagnosed because of the complicated clinical manifestations.Carefully physical examination and timely biopsy are help for early diagnosis.