OBJECTIVETo analyze the genotype-phenotype correlation among carriers from Guangdong with co-inherited hemoglobin Hb Westmead (HbWS) and β-thalassemia.

METHODSTwenty three patients (including 9 males and 14 females, aged 1-53 year old) were diagnosed by hematological analysis and genetic testing. Complete blood cell count and hemoglobin electrophoresis analysis were performed on a XE4000i automatic hemocyte analyzer. Hb, HbF and HbA2 were tested by high performance liquid chromatography (HPLC). Gap-PCR was adopted to detect three common thalassemia deletions. Reverse dot-blotting (RDB) assay was applied for detecting three common non-deletional α2 gene mutations and β-thalassemia.

RESULTSAmong the 23 patients, 12 showed anemia, among whom 9 had mild anemia and 3 had moderate anemia. The lowest Hb was 68 g/L, and both mean corpuscular volume and mean corpuscular hemoglobin were lower than average, while HbA2 was higher than 3.5%. Genetic analysis confirmed that 5 cases had αWS-α/α-α, β CD654/β N (21.7%), 4 had α WS-α/α-α, β CD41-42/β N (17.4%), 5 had α WS-α/α-α, β CD17/β N (21.7%), 4 had α WS-α/α-α, β CD28/β N (17.4%), 1 had α WS-α/α-α, β CD71-72/β N (4.3%), 1 had αWS-α/α-α, β CD27-28/β N (4.3%), 1 had α WS-α/α-α, β CD41-42/β CD17 (4.3%), 2 had a concomitant β-thalassemia heterozygosity and -α 3.7 deletion.

CONCLUSIONPatients with co-existing Hb WS and other β-thalassemia trait may show variable clinical features. Such compound heterozygotes are usually misdiagnosed during screening by hemoglobin electrophoresis, accurate diagnose should be attained by molecular diagnosis.

Adolescent ; Adult ; Asian Continental Ancestry Group ; genetics ; Child ; Child, Preschool ; China ; DNA Mutational Analysis ; Erythrocyte Indices ; Female ; Genetic Association Studies ; methods ; Genotype ; Hemoglobins ; genetics ; metabolism ; Hemoglobins, Abnormal ; genetics ; Humans ; Infant ; Male ; Middle Aged ; Phenotype ; Polymerase Chain Reaction ; methods ; Young Adult ; beta-Thalassemia ; blood ; ethnology ; genetics

Objective:The epidemiological characteristics and trend of occupational pneumoconiosis in Hubei Province from 2011 to 2020 were analyzed to provide a theoretical basis for the development of prevention and control strategies for occupational pneumoconiosis.Methods:In March 2021, the data of newly occupational pneumoconiosis in Hubei Province from 2011 to 2020 were collected by the Occupational Diseases and Health Risk Factors Information Surveillance System. Descriptive statistics were adopted to analyze basic situation, region, industry, type of disease, year of diagnosis, age of onset and dust exposureduration of the cases.Results:From 2011 to 2020, a total of 7203 new cases of occupational pneumoconiosis were reported in Hubei Province, including 7125 (98.92%) men and 78 (1.08%) women. The average age of onset was (54.03±10.12) years old. The average duration of dust exposure was (13.80±9.56) years. The mainly types of pneumoconiosis were coal worker's pneumoconiosis (3593 cases, 49.88%) and silicosis (3301 cases, 45.83%). The cases included 4814 cases (66.83%) of stage Ⅰ pneumoconiosis, 1270 cases (17.63%) of stage Ⅱ and 1119 cases (15.54%) of stage Ⅲ. New cases mainly distributed in Yichang City (1586 cases, 22.02%), Shiyan City (1257 cases, 17.45%), Enshi Tujia and Miao Autonomous Prefecture (1050 cases, 14.58%) and Huangshi City (1009 cases, 14.01%), and occurred most frequently in coal mining and washing industry (3743 cases, 51.96%) and nonmetallic mining industry (582 cases, 8.08%). Pneumoconiosis patients of stage Ⅲ were mainly distributed in small enterprises (401 cases, 50.25%) and domestic enterprises (796 cases, 99.75%) .Conclusion:Coal worker's pneumoconiosis and silicosis accounted for the vast majority pneumoconiosis in Hubei Province. The new cases show obvious regions, industries and type of disease distribution. We should strengthen occupational health supervision in small and domestic enterprises.

Objective:To understand the epidemiological characteristics of suspected occupational diseases cases, and to track the subsequent diagnosis of suspected cases in Hubei Province from 2020 to 2021, and to provide theoretical basis for the supervision of suspected occupational diseases.Methods:In April 2022, the data of suspected occupational diseases cases and occupational diseases in Hubei Province from 2020 to 2021 were collected by the Occupational Diseases and Health Risk Factors Information Surveillance System. The distribution and diagnosis of suspected occupational diseases cases were analyzed. We investigated undiagnosed suspected occupational diseases by telephone.Results:From 2020 to 2021, a total of 1872 cases of suspected occupational diseases in 6 categories and 18 species were reported in Hubei Province. The top three suspected occupational diseases were suspected occupational noise deafness (36.75%, 688/1872), suspected coal worker's pneumoconiosis (33.07%, 619/1872) and suspected silicosis (20.99%, 393/1872). The diagnosis rate of suspected occupational diseases was 33.60% (629/1872). The rate of confirmed diagnosis was 63.59% (400/629). The diagnosis rate (26.86%, 456/1698) and rate of confirmed diagnosis (55.48%, 253/456) of suspected occupational diseases detected by occupational health examination were the lowest. The diagnosis rate of suspected occupational diseases detected by comprehensive medical institutions and private medical institutions were lower than disease prevention and control institutions and occupational disease prevention center ( P<0.05). The main reasons for not entering the diagnostic procedure included that workers were not informed that they were diagnosed as suspected occupational diseases (31.55%, 124/393), workers were unwilling to apply for occupational disease diagnosis (18.56%, 73/393), and some workers planned to apply for diagnosis but had not yet applied (10.69%, 42/393) . Conclusion:Occupational noise deafness, coal worker's pneumoconiosis and silicosis are the main diseases of suspected occupational diseases in Hubei Province. In order to increase the diagnosis rate and confirmed diagnosis rate of suspected occupational diseases, it is suggested to strengthen management and supervision from the aspects of case management, information warning and worker notification.

Objective:The epidemiological characteristics and trend of occupational pneumoconiosis in Hubei Province from 2011 to 2020 were analyzed to provide a theoretical basis for the development of prevention and control strategies for occupational pneumoconiosis.Methods:In March 2021, the data of newly occupational pneumoconiosis in Hubei Province from 2011 to 2020 were collected by the Occupational Diseases and Health Risk Factors Information Surveillance System. Descriptive statistics were adopted to analyze basic situation, region, industry, type of disease, year of diagnosis, age of onset and dust exposureduration of the cases.Results:From 2011 to 2020, a total of 7203 new cases of occupational pneumoconiosis were reported in Hubei Province, including 7125 (98.92%) men and 78 (1.08%) women. The average age of onset was (54.03±10.12) years old. The average duration of dust exposure was (13.80±9.56) years. The mainly types of pneumoconiosis were coal worker's pneumoconiosis (3593 cases, 49.88%) and silicosis (3301 cases, 45.83%). The cases included 4814 cases (66.83%) of stage Ⅰ pneumoconiosis, 1270 cases (17.63%) of stage Ⅱ and 1119 cases (15.54%) of stage Ⅲ. New cases mainly distributed in Yichang City (1586 cases, 22.02%), Shiyan City (1257 cases, 17.45%), Enshi Tujia and Miao Autonomous Prefecture (1050 cases, 14.58%) and Huangshi City (1009 cases, 14.01%), and occurred most frequently in coal mining and washing industry (3743 cases, 51.96%) and nonmetallic mining industry (582 cases, 8.08%). Pneumoconiosis patients of stage Ⅲ were mainly distributed in small enterprises (401 cases, 50.25%) and domestic enterprises (796 cases, 99.75%) .Conclusion:Coal worker's pneumoconiosis and silicosis accounted for the vast majority pneumoconiosis in Hubei Province. The new cases show obvious regions, industries and type of disease distribution. We should strengthen occupational health supervision in small and domestic enterprises.

Objective:To understand the epidemiological characteristics of suspected occupational diseases cases, and to track the subsequent diagnosis of suspected cases in Hubei Province from 2020 to 2021, and to provide theoretical basis for the supervision of suspected occupational diseases.Methods:In April 2022, the data of suspected occupational diseases cases and occupational diseases in Hubei Province from 2020 to 2021 were collected by the Occupational Diseases and Health Risk Factors Information Surveillance System. The distribution and diagnosis of suspected occupational diseases cases were analyzed. We investigated undiagnosed suspected occupational diseases by telephone.Results:From 2020 to 2021, a total of 1872 cases of suspected occupational diseases in 6 categories and 18 species were reported in Hubei Province. The top three suspected occupational diseases were suspected occupational noise deafness (36.75%, 688/1872), suspected coal worker's pneumoconiosis (33.07%, 619/1872) and suspected silicosis (20.99%, 393/1872). The diagnosis rate of suspected occupational diseases was 33.60% (629/1872). The rate of confirmed diagnosis was 63.59% (400/629). The diagnosis rate (26.86%, 456/1698) and rate of confirmed diagnosis (55.48%, 253/456) of suspected occupational diseases detected by occupational health examination were the lowest. The diagnosis rate of suspected occupational diseases detected by comprehensive medical institutions and private medical institutions were lower than disease prevention and control institutions and occupational disease prevention center ( P<0.05). The main reasons for not entering the diagnostic procedure included that workers were not informed that they were diagnosed as suspected occupational diseases (31.55%, 124/393), workers were unwilling to apply for occupational disease diagnosis (18.56%, 73/393), and some workers planned to apply for diagnosis but had not yet applied (10.69%, 42/393) . Conclusion:Occupational noise deafness, coal worker's pneumoconiosis and silicosis are the main diseases of suspected occupational diseases in Hubei Province. In order to increase the diagnosis rate and confirmed diagnosis rate of suspected occupational diseases, it is suggested to strengthen management and supervision from the aspects of case management, information warning and worker notification.