Reference intervals for erythrocyte parameters and hemoglobin electrophoresis parameters for young children in Guangxi.

BACKGROUND: Erythrocyte parameter analysis is the important means for diagnosis and treatment of hematological diseases, which are essential for screening of thalassemia in southern China combined with hemoglobin electrophoresis analysis. But little is known regarding the reference intervals (RIs) in healthy pediatrics in these two areas. METHODS: 95% RIs of erythrocyte parameters were calculated from 853 healthy preschoolers, aged from 1 days to <6 years, according to the C28-A3C guidelines of the Institute of Clinical and Laboratory Standards. To express the magnitude of sex and age variation, standard deviation ratio (SDR) was calculated using ANOVA. Concurrently, we selected 3814 thalassemia carriers as carriers group and drew receiver operating characteristic (ROC) curves to establish the optimal cut-off values of hemoglobin electrophoresis parameters, which were used as the upper/lower limits of RIs to efficiently screen thalassemia. RESULTS: All parameters except red blood cell (RBC) required age partitioning, confirmed by SDRage above .4. There was no need for sex partitioning on all parameters, confirmed by SDRsex below .4. The optimal cut-off value of Hemoglobin A2 (Hb A2) in the four subgroups was <7.8% (Hb A), 2.3%-3.2%, 2.5%-3.6% and 2.6%-3.6%, respectively. CONCLUSION: In this study, the establishment of RIs improved the diagnostic efficiency of hematological disease (especially thalassaemia) for children in Guangxi. It provides reliable hematological references for the identification and diagnosis, treatment monitoring, and health screening of children's clinical diseases.

Molecular characterisation of Hb Akron [ß52 (D3) Asp→Val] combined with thalassaemia in a Chinese family.

AIMS: Hb Akron (HBB:c.158A>T) is a rare ß-chain variant and many characteristics about its clinical features still remain unclear. In this study, we aimed to explore the molecular and haematological characterisations of previously undescribed states for Hb Akron associated with different forms of thalassaemia. METHODS: Haematology and genetic analysis were performed in 9 members from a Chinese Zhuang ethnic family. RESULTS: Hb Akron in various combinations with ß0-thalassaemia and α0-thalassaemia were identified and characterised. Simple heterozygote for Hb Akron is asymptomatic, while the compound heterozygotes of Hb Akron associated with the ß0-thalassaemia mutation generates a more severe haematological phenotype than Hb Akron or ß0-thalassaemia mutation seen in isolation. The specific peak of Hb Akron appears at Zone D (195-225 s) in the state of heterozygote and compound heterozygote on haemoglobin capillary electrophoresis device, and the reduction of Hb Akron level in heterozygotes is proportional to the degree of α-globin gene deficiency. CONCLUSIONS: We have for the first time described the genetic and haematological characteristics of Hb Akron combined with different thalassaemia mutations, which will provide useful information for genetic counselling and prenatal diagnostic service of this mutation in a population with high prevalence of thalassaemia.

Molecular Characterization of α- and ß-Thalassaemia Among Children From 1 to 10 Years of Age in Guangxi, A Multi-Ethnic Region in Southern China.

Background: Thalassemia is one of the most common genetic diseases in southern China. Howerver, population in different regions or different population has their own spectrums of thalassemia. To investigate the prevalence and spectrum features of thalassemia among children in Guangxi. Hematology and genetic analysis were performed on 71,459 children aged 1-10 years in various regions of Guangxi. Results: A total of 11,821 children were diagnoses with thalassemia including 7,615 (10.66%) subjects of α-thalassemia, 3,507 (4.90%) subjects of ß-thalassemia, and 699 (0.98%) cases with both α- and ß-thalassemia. Nine α-thalassemia mutations and 30 genotypes were identified among the α-thalassemia children. The - -SEA and - -SEA/αα were the most frequent mutation and genotype, respectively. One α-thalassemia fusion gene and a rare 2.4 kb deletion both causing α+-thalassemia were identified, respectively. Thirteen ß-thalassemia mutations and 31 genotypes were characterized among the ß-thalassemia children, with the most common mutation CD41-42 (-CTTT) accounting for 46.05% of the ß-mutations. Two rare mutations IVS-II-5 (G>C), and IVS-I-2 (T>C) were firstly identified. Furthermore, 92 genotypes were identified among 699 children with both α- and ß-thalassemia. Conclusions: Our findings highlight the great heterogeneity and the extensive spectrum of thalassemia among children in Guangxi, which provide an available reference for prevention of thalassemia in this area.

Mental Health Services in Rural China: A Qualitative Study of Primary Health Care Providers.

This study aimed to understand the challenges that primary health care providers faced in the process of delivering mental healthcare and assess their attitudes towards patients with mental health problems. In-depth interviews were conducted among 42 primary health care providers in two counties of Guangxi province, China. All interviews were audio-recorded and analyzed thematically. Primary health care providers in both counties faced the same difficulties: lack of professional knowledge, fear of patients' attack, more extra work, and less subsidies. However, most of primary health care providers (30/42) were still willing to do mental healthcare management. All the interviewees considered that communication skills with patients and their family members, proper attitude (without discrimination), and the professional knowledge of mental health are required. There are still several participants (15/42) who showed negative attitude toward mental disorders. Nearly all the respondents (39/42) emphasized the importance of increasing their income or subsidies by the government. This qualitative study provides insights into mental health services in rural communities of Guangxi and identified issues that could be considered in engaging primary health care providers in the management of mental disorders.