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06 December 2018, Volume 33 Issue 12 Previous Issue    Next Issue

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Expert consensus on the diagnosis，treatment and management of non-transfusion-dependent thalassemia in children Guangdong Prevention and Treatment Society of Thalassemia，The Editorial Board of Chinese Journal of Practical Pediatrics 2018, 33(12): 929-934.  DOI: 10.19538/j.ek2018120601 Abstract ( )

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Expert consensus on the treatment of hematopoietic stem cell transplantation for beta-thalassemia major in children Guangdong Prevention and Treatment Society of Thalassemia，The Editorial Board of Chinese Journal of Practical Pediatrics 2018, 33(12): 935-939.  DOI: 10.19538/j.ek2018120602 Abstract ( )

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Interpretation of guidelines for diagnosis and treatment of beta-thalassemia major（2017） XU Lyu-hong，FANG Jian-pei 2018, 33(12): 940-943.  DOI: 10.19538/j.ek2018120603 Abstract ( )   Thalassemia is a chronic hemolytic inherited disease through single-gene mutation. Thalassemia is caused by a decrease in the production of globin chains. Beta-thalassemia major is detrimental to health in patients and is considered as a major public health issue. It is of significance to standardize the diagnosis and treatment of β-thalassemia major in our country. In this article，aiming to provide information and references to help clinical doctors，we try to interpret the guidelines for diagnosis and treatment of β-thalassemia major（2017）.

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Interpretation of Chinese experts to Toward New Classification Criteria for Juvenile Idiopathic Arthritis：First Steps，Pediatric Rheumatology International Trials Organization International Consensus published in 2018 China Children’s Immunity and Health Alliance（CCIHA） 2018, 33(12): 944-949.  DOI: 10.19538/j.ek2018120604 Abstract ( )   Toward New Classification Criteria for Juvenile Idiopathic Arthritis：First Steps，Pediatric Rheumatology International Trials Organization International Consensus was published on Journal of Rheumatology in October，2018，and then at the 2018 Annual Meeting of American Colleage of Rheumatology（ACR），the relevant experts introduced the same content. Although the new JIA classification criteria in the process of improvement in western countries is still，PRINTO has designed a two-step’s prospective study，which will form a mature new JIA classification criteria after its completion. The new trend and progress of this subject is of great significance to the diagnosis，treatment and research of JIA in the world. CCIHA has organized a group of relevant Chinese experts to interpret the international consensus，aiming at putting forward suggestions and opinions of Chinese experts on the new classification of JIA，providing a basis for future research on the real world research of JIA in China，and putting forward the opinions of Chinese experts to be in line with the new international criteria. This paper only interprets faithfully the original English text. The formation and application of JIA’s new classification criteria in China still need further study and discussion.

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Paying attention to the diagnosis and treatment of thalassemia in children WANG Tian-you*，WU Xue-dong 2018, 33(12): 950-953.  DOI: 10.19538/j.ek2018120605 Abstract ( )   Thalassemia is one of the most common and serious single-gene genetic diseases in the world. However，due to the lack of understanding of this disease by primary clinicians and parents of children，as well as the limitations of China’s economic development level，many children have not received timely diagnosis and formal treatment. It is of great significance to pay attention to the diagnosis and treatment of   thalassemia in children，especially to improve the level of prenatal diagnosis and avoid the misdiagnosis of rare and poor gene mutations. It’s also important to perform proper treatment in order to enable the children to live longer and improve their life qualtiy.

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Molecular basis and precise diagnosis of thalassemia SHANG Xuan，XU Xiang-min 2018, 33(12): 954-957.  DOI: 10.19538/j.ek2018120606 Abstract ( )   Thalassemia is one the most common single gene disorders worldwide. It is also one of the most common birth defects in South China. To prevent the birth of a fetus with severe thalassemias is an important public health issue in high-incidence area. Accurate diagnosis of the thalassemia patients depends on the comprehensive consideration of the genetic pathogenesis of thalassemias. Here we make a brief introduction of some fundamental genetic knowledge of thalassemias，including hemoglobin synthesis and hemoglobin switch，globin gene imbalance anemia，gene mutations and phenotype variation and effect of genetic modifier to the phenotype，etc. Especially，because deep sequencing has become popular，genetic testing based on NGS data provides an implementation basis for the accurate interpretation of clinical phenotypic variation（precise diagnosis）. On the basis of a thorough understanding of the above information，clinicians should have the ability to provide more effective DNA analysis and genetic counseling for the affected families.

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Classification and diagnosis standards of thalassemia WU Xue-dong*， XU Xiao-xiao 2018, 33(12): 957-961.  DOI: 10.19538/j.ek2018120607 Abstract ( )   The classification of thalassemia is mainly based on the types of the defective synthesis of the globin chains of adult hemoglobin A and clinical features；the former mainly includes α，β，γ，δ，δβ，etc.，and α or β thalassemia is the most common form of thalassemia；the latter is classified as transfusion-dependent thalassemia and non-transfuion-dependent thalassemia in terms of long-term survival depending on blood transfusion. The diagnostic techniques include screening test and genetic test：the former diagnostic method is mainly based on the morphology of red blood cells and the physical and chemical properities，including routine analysis of blood，red blood cell morphology and hemoglobin electrophoresis，etc.，and the latter is mainly based on PCR technology，including gap-PCR，real-time PCR，gene chip and DNA screening，etc. This paper reviews the classification and laboratory diagnosis techniques in thalassemia，combining comprehesive screening method with technique of genetic diagnosis，which appropriately contributes to the diagnosis of thalassemia.

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A proposed working standard on prenatal diagnosis for thalassemia ZENG Xiao-hong*，YIN Ai-hua，ZHU Bao-sheng 2018, 33(12): 961-965.  DOI: 10.19538/j.ek2018120608 Abstract ( )   Prenatal diagnosis is the most effective secondary prevention method for prevention and control of thalassemia. Its purpose is to prevent the birth of children with major thalassemia. For high-risk pregnant women whose fetuses have risks of suffering from major or intermediate thalassemia，DNA samples from fetal cells could be obtained by invasive sampling at 11 to 14 weeks or 17 to 26 weeks of gestation. In order to diagnose whether the fetus is affected by major or intermediate thalassemia，the fetal DNA is extracted to perform molecular detection. The clinical and laboratory work of thalassemia prenatal diagnosis requires strict technical requirements and quality control. Preimplantation genetic diagnosis（PGD） for thalassemia is one of highly technical requirements. The combination of β-thalassemia PGD and HLA matching is highly applicable to families where there are children suffering from major or intermediate β-thalassemia. Non-invasive prenatal test（NIPT） for thalassemia is still in research stage，which is unable to replace the invasive prenatal diagnosis procedure.

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Treatment and comprehensive management of thalassemia WANG Xiao-dong，LI Chang-gang 2018, 33(12): 965-970.  DOI: 10.19538/j.ek2018120609 Abstract ( )   Thalassemia is a hereditary hemolytic anemia caused by globin peptide gene deficiency. β- thalassemia and α- thalassemia are the most common clinical disorders of β- and α- peptide chain synthesis. Both thalassemia intermedia and major may significantly effect on patient’s growth develop-ment and quality of life，especially in patients with thalassemia major. If not receiving hematopoietic stem cell transplanta-tion，they need rely on life-long blood transfusion and chelation therapy. That leads a high medical costs and a great burden on families，society and the country. Therefore，it is essencial in how to strengthen the management of thalassemic population standardize thalassemic patient’s blood transfusion and iron chelation treatment，effectively to improve the quality life of thalassemic patients and to monitor the population of thalassemia gene carrier，health education and birth intervention.

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Problems and countermeasures of transfusion-related red blood cell immunity in patients with thalassemia YIN Xiao-lin*，CHEN Chun 2018, 33(12): 970-973.  DOI: 10.19538/j.ek2018120610 Abstract ( )   Patients with thalassemia who received red blood cell transfusion repeatedly are more likely to produce allogeneic antibodies and autoantibodies against erythrocytes due to long-term exposure to erythrocyte membrane antigens other than ABO/Rh（D）. Antibodies can lead to difficulty in blood cross matching，comprimised efficacy of blood transfusion，hemolysis，which sometimes is life-threatening. In order to reduce allogeneic antibodies after transfusion，the range of erythrocyte cross matching should be expanded to Rh and Mia/Mur system and precision erythrocyte cross matching method should be developed for thalassemia major. For those who have clinically significant erythrocyte antibodies，corresponding antigens should be screened before transfusion，even after those antibodies become undetectable. In patients with hemolysis and shortened blood transfusion interval，autoimmune hemolytic anemia should be taken into consideration，and glucocorticosteroid-based immunosuppression therapy is recommended.

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Iron overload status and assessment of organ iron overload in patients with thalassemia YANG Gao-hui，LAI Yong-rong 2018, 33(12): 974-977.  DOI: 10.19538/j.ek2018120611 Abstract ( )   Repeated  blood transfusion therapy is the major cause of iron overload in thalassaemia major and increased GI absorption is more important in non-transfusion dependent thalassaemia（NTDT）. Iron overload is inevitable because the human body lacks a mechanism to excrete excess iron. Iron accumulation is toxic to many tissues，causing heart failure，cirrhosis，diabetes，growth retardation and multiple endocrine abnormalities. MRI T2* and MRI R2 technique is now validated as a true measure of cardiac iron and liver iron concentration respectively. Serum ferritin underestimates liver iron concentration in NTDT Patients. Assessment of iron overload status in NTDT patients should be done through liver iron concentration measurement.

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Endocrine function and fertility in children with thalassemia JIN Jiao，HE Zhi-xu，ZHANG Xin-hua 2018, 33(12): 977-982.  DOI: 10.19538/j.ek2018120612 Abstract ( )   Early blood transfusion，high serum ferritin level，poor compliance with chelation therapy and splenectomy are the main risk factors for endocrine complications in patients with severe thalassemia. Endocrine system complications are manifested in the following aspects：firstly，growth retardation and hypothalamus-pituitary-gonad axis disorder，manifested as puberty stagnation，delay and hypogonadism；secondly，hypoparathyroidism（HPT） and subclinical hypothyroidism. finally，impaired pancreas function，characterized by abnormal glucose tolerance test and symptomatic diabetes mellitus.

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Gene therapy for thalassemia LIU Hua-ying，LI Chun-fu 2018, 33(12): 982-984.  DOI: 10.19538/j.ek2018120613 Abstract ( )   Gene therapy for thalassemia is based on gene-modified autologous hematopoietic stem cell transplantation. At present，preclinical and clinical studies have proved the safety and efficacy of lentivirus vector gene therapy，but there are still many factors limiting its clinical application，such as the quantity and quality of effective stem cells，the efficiency of gene transduction，level of gene expression，and toxicity of pre-transplantation preconditioning regimen.

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Mental psychological and management of children with thalassemia and their parents LAN He-kui*，LUO Xue-qun 2018, 33(12): 984-988.  DOI: 10.19538/j.ek2018120614 Abstract ( )   Previous study using Eysenck personality questionnaire，Achenbach children’s behavior checklist，SF-36 quality of life questionnaire，Cochrane Database of Systematic Reviews and other methods found that the children with thalassemia major had psychological behavior problems，such as poor social competence，anxiety，depression，social withdrawal，hyperactivity. Their parents experienced shock，denial，sadness and anger，adaptation and cognitive psychological changes，then gradually adapted over time. Patients education, cognitive therapy，behavioral therapy，mental resilience training，focused coping model of intervention in the treatment of children with thalassemia and their parents’psychological behavior problems can help them better cope with daily life，fulfill the role of society，and achieve better quality of life.

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Treatment for hemoglobin H disease WANG Li，ZHANG Ya-qing，ZHANG Xin-hua 2018, 33(12): 989-992.  DOI: 10.19538/j.ek2018120615 Abstract ( )

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Hematopoietic stem cell transplantation in the treatment of thalassemia LIU Hua-ying，LI Chun-fu 2018, 33(12): 993-996.  DOI: 10.19538/j.ek2018120616 Abstract ( )

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Indications for splenectomy in patients with thalassemia LI Chang-gang 2018, 33(12): 997-999.  DOI: 10.19538/j.ek2018120617 Abstract ( )

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Selection and strategy of splenectomy in patients with moderate and severe thalassemia ZHOU Ya-li，ZHANG Ya-qing，ZHANG Xin-hua 2018, 33(12): 1000-1003.  DOI: 10.19538/j.ek2018120618 Abstract ( )

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Family burden of children with thalassemia and its influencing factors ZHOU Nan，JIN Jiao，HUANG Jing，et al 2018, 33(12): 1004-1008.  DOI: 10.19538/j.ek2018120619 Abstract ( )   Objective　To study the family burden of children with thalassemia and their family members in Guizhou province. Methods　Family burden scale of disease（FBS） and basic situation questionnaire were used to investigate 114  family members of children with thalassemia aged 0～14 who were diagnosed and treated in the Department of Pediatric Hematology and Oncology，Affiliated Hospital of Guizhou Medical University，from December 2016 to April 2018. Results　The total score of FBS of  family members of children with thalassemia was （21.53±7.89）. The standardization scores of each dimension from high to low were family economic burden （1.389±0.330），family entertainment activities （0.914±0.530），family relationship （0.807±0.530），mental health of family members（0.680±0.570），daily activities of the family （0.679±0.390） and physical fitness of family members （0.442±0.440）. Univariate analysis，t/F test showed that the diagnosis typing of children with thalassemia，iron overload，medical insurance and monthly family income were the main factors affecting FBS（P＜0.05）. Multivariate linear regression analysis showed that  the effect of diagnostic typing，medical insurance，and monthly family income on FBS was statistically significant（P＜0.05）. Conclusion　The family burden of children with thalassemia is widespread. It’s time that effective measures should be take to slove the problem according to family burden situation and its influencing factors.