Study on Efficacy of Hepatitis B Immunization in Vaccinated Beta-thalassemia Children in Tehran

Objective

In thalassemic children, HBV infection is common, thus immunization against HBV will reduce and prevent the rate of infection. The aim of this study was to evaluate the efficacy of HBV immunization and the prevalence of HBV infection in beta-thalassemic children in Tehran.

Methods

To assess the efficacy of immunization and determine the immune response of children with beta-thalassemia, sera of 99 children who had received three doses (10/20 µg) of recombinant HBV vaccine in months 0, 1, 6, were selected and tested for HBsAg, HBsAb and anti-HBc by ELISA method. Also, these sera were tested for HBV DNA using nested-PCR method.

Findings

In 99 beta-thalassemic children, 89 (89.9 %) were anti-HBs positive (responders) and 10 (10.1%) anti-HBs negative (non-responders). 3 (3.03%) were anti-HBc positive and 1(1.01%) was HBsAg positive. HBV DNA was not detected in any of them.

Conclusion

Our results have revealed that hepatitis B vaccine is highly immunogenic for thalassemic children and particularly well tolerated.     

Bêta-thalassémie intermédiaire compliquée d’une compression médullaire. Étude de trois observations et méta-analyse

Extramedullary hematopoiesis is common in patients who suffer from beta-thalassemia. Extramedullary hematopoiesis is a compensatory mechanism of chronic anemia. Although the diagnosis is relatively easy, management is still the subject of considerable controversy. The aim of the present paper is to report three cases of spinal cord compression due to beta-thalassemia followed by a meta-analysis. In one of the three cases reported, spinal compression revealed beta-thalassemia. Forty-three cases have been reported in the last 10 years, i.e., four cases per year. The diagnosis was made by CT and myelography and confirmed by histology after surgical treatment. Two patients were followed in the hematology department. Young patients accounted for 95.45% of cases. The time to diagnosis was 3.33 months (3 days to 12 months). The most sensitive exam for diagnosis is magnetic resonance imaging before surgery. The MR image shows a hypointense lesion on T1-weighted sequences in 30.43% of cases or isointense on T2-weighted sequences in 34.78% of cases, and hypointense on T1-weighted sequences enhanced with gadolinium in 42.85% of cases. When MRI is absent, as in our patients, myelography can provide the diagnosis. The vertebrae are enlarged and translucent in 85.71% of cases with a hypodense lesion compressing the spinal cord. Laboratory tests show chronic microcytosis hemolytic anemia in 97.17% of cases. The diagnosis was established by histology performed after surgical removal. The patients recovered 97.5% of their neurologic deficiency after specific treatment. The mean follow-up was 2 years (4 weeks to 15 years).     

Cooley's anaemia in association with mucopolysaccharidosis (Type IV) and enchondromatosis respectively

Cooley's anaemia has been observed in conjunction with, in one instance, Morquio's syndrome and, in a second instance, enchondromatosis. The clinical and radiological findings are described. The genetics of these associations are analyzed; their influence on prognosis for the individual child and for genetic counselling for the family are discussed.     

Hypoparathyroidism and intracerebral calcification in patients with beta-thalassemia major

Background

Hypoparathyroidism is one of the most important endocrine complications of thalassemia major. This study was conducted to evaluate the prevalence of intracerebral calcifications in patients with thalassemia with and without hypoparathyroidism.

Methods

47 beta-thalassemia patients with hypoparathyroidism underwent a brain CT scan to investigate the presence and extent of intracerebral calcification. 30 age- and sex-matched beta-thalassemic patients with normal parathyroid function who had undergone brain CT for headache, or some other minor neurologic problems were also enrolled in the study serving as controls. The amount of intracerebral calcification, hematologic parameters, and some clinical findings were compared between both groups.

Results

Intracerebral calcification was present in 54.2% of beta-thalassemia patients with hypoparathyroidism. The most frequent sites of calcification were basal ganglia, and frontoparietal areas of the brain. Thalami, internal capsule, cerebellum and posterior fossa were other less frequently calcified regions of the brain. In contrast, there was no evidence of intracerebral calcifications in the 30 thalassemic patients with normal parathyroid function.There was not a statistically significant difference between serum ferritin concentrations in thalassemia patient with hypoparathyroidism and those with normal parathyroid function (2781 vs. 2178, P > 0.05).

Conclusion

Intracranial calcification is a common finding in thalassemia patients with hypoparathyroidism, it can be extensive and involves most regions of the brain.     

地拉罗司治疗重型β-地中海贫血铁过载的三年临床试验研究

目的 评价新型口服铁螯合剂--地拉罗司治疗重型β-地中海贫血(β-地贫)患者铁过载的疗效及安全性.方法 采用单组、开放试验设计,观察23例重型β-地贫铁过载患者3年随访中地拉罗司的疗效及安全性.结果 入组的23例重型β-地贫患者治疗前均未规则使用铁螫合剂,铁过载状况严重[血清铁蛋白平均基线值为(5433.96±2873.90)μg/L].20 mg·kg-1·d-1的地拉罗司能维持患者铁过载处于平衡状态,治疗前后血清铁蛋白水平无显著性变化;随治疗时间的延长,服药剂量的增加,≥30 mg·kg-1·d-1的地拉罗司能使患者铁过载达到负平衡状态,治疗前后比较血清铁蛋白水平差异具有统计学意义(P＜0.01).3年随访中未出现地拉罗司的严重不良反应事件,常见的不良反应是肝转氨酶及血清肌酐轻度升高.23例患者均能按时服药,顺利完成临床研究,无死亡病例.结论 作为一种新型的口服铁螯合剂,地拉罗司能显著改善患者铁过载状况,其疗效与治疗时间、药物剂量具有一定相关性.简便的服药方式,良好的安全性及耐受性,使地拉罗司能明显提高患者生活质量,更好地满足铁过载患者治疗需要.     

多重巢式聚合酶链反应在β地中海贫血植入前遗传学诊断中的应用

目的探讨应用多重巢式聚合酶链反应(PCR)技术在β地中海贫血(简称β地贫)植入前遗传学诊断(PGD)中的应用。方法获取β地贫基因携带者单个淋巴细胞,建立了稳定的单细胞多重巢式PCR检测技术,可同时检测β珠蛋白基因及与β珠蛋白基因紧密连锁的HumTH01基因,并对4例已出生的重型β地贫患儿及双方均为β地贫基因携带者的夫妇应用多重巢式PCR进行了β地贫的PGD。结果利用单细胞多重巢式PCR,可以同时检测中国人常见的16种β地贫突变类型,单个淋巴细胞平均扩增效率为91．3％,平均等位基因脱扣(ADO)率为17．0％。对4对夫妇进行4个周期PGD,共活检33个胚胎,获得33个卵裂球,其中30个卵裂球扩增成功,扩增效率为90．9％,ADO率为13．3％。26个胚胎经PCR分析后获得明确诊断,移植了8个胚胎,获得1例临床妊娠。孕17周时经脐带血穿刺,证实为完全正常胚胎,现已出生1名正常女婴。结论应用单细胞多重巢式PCR技术可对β地贫进行植入前遗传学诊断,达到优生目的。     

Elevated plasma asymmetric dimethylarginine levels in children with beta-thalassemia major may be an early marker for endothelial dysfunction

Objectives: Beta-thalassemia major is associated with the increased risk of cardiovascular morbidity and mortality. Asymmetric dimethylarginine (ADMA) has been implicated in the pathogenesis of endothelial dysfunction and atherosclerosis. In this study, we aimed to investigate circulating ADMA concentrations in children with beta-thalassemia major.

Methods: Thirty-one beta-thalassemia major children aged between 4 and 16 year old and age, gender-matched 36 healthy controls were enrolled in the study. Plasma ADMA was measured along with the soluble vascular cell adhesion molecule-1 (sVCAM-1), soluble intercellular adhesion molecule-1 (sICAM-1), P-selectin, and Pentraxin-3.

Results: Age, gender and body mass index were similar in two groups. Plasma ADMA, sVCAM-1, and sICAM-1 measurements were significantly higher in beta-thalassemia major patients than the control group (p?p?r?=?0.437, p?r?=?0.544, p?r?=?0.405, p?Discussion: The findings of the current study show us that increased plasma ADMA levels in children with beta-thalassemia major may be an early marker for endothelial dysfunction and may play a role in the development of premature atherosclerosis in beta-thalassemia major patients.     

Evaluation of beta-thalassemia in the fetus through cffDNA with multiple polymorphisms as a haplotype in the beta-globin gene

ObjectiveInvasive biopsy during the pregnancy is associated with an abortion risk of approximately 1% for the fetus. Free fetal DNA in maternal plasma is an excellent source of genetic material for prenatal molecular diagnoses. This study was conducted to investigate beta-thalassemia mutation in the fetus through maternal blood with multiple polymorphisms as haplotypes in the beta-globin gene.MethodsIn this study, a total of 33 beta-thalassemia carrier (minor) couples were genotyped by ARMS-PCR for IVSII-IG>A mutation. During pregnancy, 10 mL of blood was collected from pregnant women, and DNA was extracted by the magnetic bead-based extraction, and fetal DNA was enriched with AMPure XP kit. Five polymorphisms in 4 haplotype groups were evaluated by the Sanger Sequencing method. Finally, results were compared with those of the invasion method.ResultsParticipants in study were 33 couples, mean age of the men was 26 ± 5 years, and mean age of women was 23 ± 4 years, and mean MCV, MCH, HbA2 blood parameters were 62.4 ± 5.3, 19.6 ± 3.1, 4.2 ± 2.1 respectively. A total of 33 fetuses were genotyped for IVSII-IG>A mutation. Nine fetuses were affected, 10 fetuses were normal and 14 fetuses were carrier of beta-thalassemia. Sensitivity and specificity of Sanger Sequencing were equal to 88.8% and 91.6% respectively. Positive and negative predictive values were obtained as 80% and 95.6%, respectively.ConclusionMutational status of the fetus can be assessed by determining inheritance of paternally-derived alleles based on detection of haplotype-associated SNP in maternal plasma. Magnetic-based DNA extraction and fetal DNA enrichment are very simple and easy to perform and have satisfactory accuracy.     

重型β-地中海贫血患儿心率变异性的分析

目的：该研究通过对重型β-地中海贫血（β-TM）患儿心率变异性（HRV）的变化特点的研究,探讨HRV对β-TM患儿心功能异常的诊断价值。方法：对21例β-TM患儿（地贫组）和15例正常儿童（对照组）分别进行24 h动态心电图（Holter）检查,比较分析两组HRV时域和频域指标的变化及β-TM患儿血清铁蛋白水平与HRV的相关性。结果：地贫组患儿HRV时域指标SDNN、rMSSD、pNN50 和频域指标极低频谱（VLF）、低频谱（LF）、高频谱（HF）均降低,与对照组比较差异有统计学意义（P<0.05）;血清铁蛋白水平与HRV的变化无相关性。结论：β-TM患儿自主神经功能异常;HRV对β-TM患儿早期心功能异常有预测价值。     

Comparative evaluation of oral and dento-maxillofacial manifestation of patients with sickle cell diseases and beta thalassemia major

Background: Regarding the importance of oral and dental health in patients with hemoglobinopathies and also due to the different results of different studies in this background, in patients with beta thalassemia (BTM) and sickle cell disease (SCD), this study aimed to evaluate and compare the oral and dental manifestations of patients with BTM and SCD.

Material and methods: In this cross-sectional study during the years 2014–2017, a total of 175 patients (with documented BTM or SCD attending to Tehran, Mashhad, Isfahan, and Tabriz cities central hospitals) were randomly recruited. Required information was gathered through a thorough physical examination of the oral cavity in a private office and a face-to-face interview by an orthodontist and two dentists. Data were analyzed using SPSS version 22.0.

Results: In general, 120 diagnosed patients with BTM (88 males and 32 females) and 55 patients with SCD (25 males and 30 females) attending to Iran largest cities, central hospitals were randomly recruited. We found a significantly higher prevalence (p?Conclusion: Finally, the study gives an insight into the various oral and dento-maxillofacial manifestations of SCD and BTM and also reveals an association that exists between the oral and dento-maxillofacial manifestations and systemic health in these patients, thus stressing the importance of the concise and periodic examination of these individuals to perform appropriate preventive dental and periodontal care, and the facilitation of the management of the disease.