HFE gene mutations and iron status of Brazilian blood donors

Mutations of the HFE and TFR2 genes have been associated with iron overload. HFE and TFR2 mutations were assessed in blood donors, and the relationship with iron status was evaluated. Subjects (N = 542) were recruited at the Hemocentro da Santa Casa de São Paulo, São Paulo, Brazil. Iron status was not influenced by HFE mutations in women and was independent of blood donation frequency. In contrast, men carrying the HFE 282CY genotype had lower total iron-binding capacity (TIBC) than HFE 282CC genotype carriers. Men who donated blood for the first time and were carriers of the HFE 282CY genotype had higher transferrin saturation values and lower TIBC concentrations than those with the homozygous wild genotype for the HFE C282Y mutation. Moreover, in this group of blood donors, carriers of HFE 63DD plus 63HD genotypes had higher serum ferritin values than those with the homozygous wild genotype for HFE H63D mutation. Multiple linear regression analysis showed that HFE 282CY leads to a 17.21 percent increase (P = 0.018) and a 83.65 percent decrease (P = 0.007) in transferrin saturation and TIBC, respectively. In addition, serum ferritin is influenced by age (3.91 percent, P = 0.001) and the HFE 63HD plus DD genotype (55.84 percent, P = 0.021). In conclusion, the HFE 282Y and 65C alleles were rare, while the HFE 63D allele was frequent in Brazilian blood donors. The HFE C282Y and H63D mutations were associated with alterations in iron status in blood donors in a gender-dependent manner.

HFE gene mutations and iron status of Brazilian blood donors.

Mutations of the HFE and TFR2 genes have been associated with iron overload. HFE and TFR2 mutations were assessed in blood donors, and the relationship with iron status was evaluated. Subjects (N = 542) were recruited at the Hemocentro da Santa Casa de São Paulo, São Paulo, Brazil. Iron status was not influenced by HFE mutations in women and was independent of blood donation frequency. In contrast, men carrying the HFE 282CY genotype had lower total iron-binding capacity (TIBC) than HFE 282CC genotype carriers. Men who donated blood for the first time and were carriers of the HFE 282CY genotype had higher transferrin saturation values and lower TIBC concentrations than those with the homozygous wild genotype for the HFE C282Y mutation. Moreover, in this group of blood donors, carriers of HFE 63DD plus 63HD genotypes had higher serum ferritin values than those with the homozygous wild genotype for HFE H63D mutation. Multiple linear regression analysis showed that HFE 282CY leads to a 17.21% increase (P = 0.018) and a 83.65% decrease (P = 0.007) in transferrin saturation and TIBC, respectively. In addition, serum ferritin is influenced by age (3.91%, P = 0.001) and the HFE 63HD plus DD genotype (55.84%, P = 0.021). In conclusion, the HFE 282Y and 65C alleles were rare, while the HFE 63D allele was frequent in Brazilian blood donors. The HFE C282Y and H63D mutations were associated with alterations in iron status in blood donors in a gender-dependent manner.

Iron deficiency and frequency of HFE C282Y gene mutation in Brazilian blood donors.

Limited data are available about iron deficiency (ID) in Brazilian blood donors. This study evaluated the frequencies of ID and iron-deficiency anaemia (IDA) separately and according to frequency of blood donations. The protective effect of the heterozygous genotype for HFE C282Y mutation against ID and IDA in female blood donors was also determined. Five hundred and eight blood donors were recruited at the Blood Bank of Santa Casa in Sao Paulo, Brazil. Haemoglobin and serum ferritin concentrations were measured. The genotype for HFE C282Y mutation was determined by polymerase chain reaction followed by restriction fragment length polymorphism analysis. The ID was found in 21.1% of the women and 2.6% of the men whereas the IDA was found in 6.8 and 0.3%, respectively. The ID was found in 11.9% of the women in group 1 (first-time blood donors) and the frequency increased to 38.9% in women of the group 3 (blood donors donating once or more times in the last 12 months). No ID was found in men from group 1; however the ID frequency increased to 0.9% in group 2 (who had donated blood before but not in the last 12 months) and 5.0% in group 3. In summary, the heterozygous genotype was not associated with reduction of ID or IDA frequencies in both genders, but in male blood donors it was associated with a trend to elevated ferritin levels (P = 0.060). ID is most frequent in Brazilian women but was also found in men of group 3.

Effects of the LactoSorb bioabsorbable plates on the craniofacial development of rabbits: direct morphometric analysis using linear measurements.

The use of plates for the treatment of fractures can affect craniofacial bone development. This study investigated the effect of bioabsorbable plates and titanium microscrews on the growth of the craniofacial skeleton of rabbits (Oryctolagus cuniculus), in the neonatal period. A LactoSorb plate and PROMM titanium microscrews were positioned across the coronal suture in animals in the study group. In the control group, only PROMM titanium microscrews were attached to the cranium. Anteroposterior linear measurements were obtained using 3 different gauging devices: digital precision caliper, EKG caliper and nylon string. Frontal-nasal (FN) distances were statistically different between the left and right side when the digital caliper (P

[Prenatal corticoid therapy in hypertensive syndromes of pregnancies and its effects in maternal blood pressure]. / Corticoterapia pré-natal nas síndromes hipertensivas da gestação e seus efeitos na pressão arterial materna.

PURPOSE: To evaluate the behaviour of blood pressure among hypertensive pregnants during glucocorticoid therapy (LIGGINS scheme) in order to accelerate the maturity of fetal lung. METHODS: In a retrospective study, 27 pregnant with a story of hypertensive disorder, between 24 and 34 weeks, during glucocorticoid cycle were avaluated. For this matter, statistical analisis were performed using the means of systolic (SBP) and diastolic blood pressure during the therapy days, on the day before and on the day after. The results were statistically analyzed with F statistic test ( significant if p<005) RESULTS: There was no statistical variance in blood pressure levels, neither in SBP nor in DBP. There was no difficulty in clinical controls and no change in antihypertensive drugs related to glucocorticoid therapy. CONCLUSIONS: Our results show observe the safety of glucocorticoid therapy among pregnant women with hypertensive disorders related to the possible raising of the blood pressure levels.

Corticoterapia pré-natal nas síndromes hipertensivas da gestaçäo e seus efeitos na pressäo arterial materna / Prenatal corticoid therapy in the hypertensive syndromes of pregnancies and its effects in maternal blood pressure

OBJETIVOS: Avaliar o comportamento da pressäo arterial em gestantes portadoras de síndromes hipertensivas na vigência de ciclo de corticóide (esquema de LIGGINS) utilizado para a aceleraçäo da maturidade pulmonar fetal. MÉTODOS: A partir de estudo retrospectivo, foram avaliadas 27 gestantes portadoras de hipertensäo arterial, com idade gestacional entre 24 e 34 semanas, submetidas a corticoterapia antenatal. Para tanto, foi realizada análise estatística das médias das pressöes arteriais sistólicas e diastólicas separadamente, dos dias anterior, primeiro e segundo dias que compöem o ciclo de corticoterapia e do dia posterior a este ciclo. Obtidas as variâncias, foi aplicado o teste F Statistic, analisado através do valor de p, significante, se menor que 0,05. RESULTADOS: Näo foi observada variaçäo significativa dos níveis de pressäo arterial, seja sistólica como diastólica, näo se identificando dificuldades no controle clínico das pacientes, näo tendo sido observada necessidade de elevaçäo das doses de drogas hipotensores utilizadas. CONCLUSÄO: Nossos resultados observaram segurança na utilizaçäo de ciclos de corticóides em pacientes portadoras de hipertensäo arterial em relaçäo à possíveis agravos dos níveis pressóricos

Iron deficiency in blood donors.

CONTEXT: Blood donation results in a substantial loss of iron (200 to 250 mg) at each bleeding procedure (425 to 475 ml) and subsequent mobilization of iron from body stores. Recent reports have shown that body iron reserves generally are small and iron depletion is more frequent in blood donors than in non-donors. OBJECTIVE: The aim of this study was to evaluate the frequency of iron deficiency in blood donors and to establish the frequency of iron deficiency in blood donors according to sex, whether they were first-time or multi-time donors, and the frequency of donations per year. DESIGN: From September 20 to October 5, 1999, three hundred blood donors from Santa Casa Hemocenter of São Paulo were studied. DIAGNOSTIC TESTS: Using a combination of biochemical measurements of iron status: serum iron, total iron-binding capacity, transferrin saturation index, serum ferritin and the erythrocyte indices. RESULTS: The frequency of iron deficiency in blood donors was 11.0%, of whom 5.5% (13/237) were male and 31.7% (20/63) female donors. The frequency of iron deficiency was higher in multi-time blood donors than in first-time blood donors, for male blood donors (7.6% versus 0.0%, P < 0.05) and female ones (41.5% versus 18.5%, P < 0.05). The frequency of iron deficiency found was higher among the male blood donors with three or more donations per year (P < 0.05) and among the female blood donors with two or more donations per year (P < 0.05). CONCLUSIONS: We conclude that blood donation is a very important factor for iron deficiency in blood donors, particularly in multi-time donors and especially in female donors. The high frequency of blood donors with iron deficiency found in this study suggests a need for a more accurate laboratory trial, as hemoglobin or hematocrit measurement alone is not sufficient for detecting and excluding blood donors with iron deficiency without anemia.

Evaluation of the nucleolar organizer region associated proteins in exfoliative cytology of normal buccal mucosa. Effect of smoking.

An evaluation of cellular alterations in the smoker's oral mucosal cells was performed. The Exfoliative Cytology technique was applied and the cytological smears stained with silver for the enumeration of Argyrophilic nucleolar organizer regions (AgNORs). Cytological smears were collected from two anatomic sites: floor of the mouth and tongue border, in both groups, smokers and non smokers, with a purpose of correlating the smoking habit to possible cellular alterations. The enumeration of the AgNORs showed that the average number of AgNORs is higher in smokers. There is a significant difference (P=0.0001) between smears from the floor of the mouth and from tongue border in the smoking group. In this study, no correlation between number of cigarettes, age and gender was found, but the results suggest that there might be a correlation between the smoking habit and an increased rate of cellular proliferation in the oral mucosal cells.

Genetic analysis of beta-thalassemia major and beta-thalassemia intermedia in Brazil.

The development of methodologies to identify the molecular lesions responsible for different types of beta-thalassemia has made it possible to correlate these data with clinical and hematological severity. We examined DNA from 35 patients with beta-thalassemia, residents of the State of São Paulo, Brazil, for some types of genetic modifying factors: beta-thalassemia mutations, the upstream Xmnl GY-globin gene polymorphisms, and alpha-globin gene deletions. Additionally, the beta-like gene cluster haplotypes and the presence of the AYT variant were studied. The following mutations were present in the 70 chromosomes studied: 54.3% codon 39 (C-->T) (beta degree); 18.6% IVS-I-6 (T-->C) (beta+); 18.6% IVS-I-110 (G-->A) (beta+), and 4.3% IVS-I-1 (G-->T) (beta degree). Haplotype II was associated with the nonsense mutation at codon 39, haplotype I with the IVS-I-110 and codon 39 mutations, and haplotypes VI and VII with the IVS-I-6 mutation. The Xmnl polymorphism was detected in three out of 31 patients studied. No alpha-thalassemia was detected among the thalassemia intermedia patients. The AYT variant was present in 87.1% of 31 thalassemia patients and was associated with the codon 39/haplotype II and IVS-I-6/haplotype VI mutations. This is the first study of the Brazilian population that has analyzed the beta-thalassemia mutations and other molecular variants, and has correlated them with the clinical manifestations.

Spinal cord compression in beta-thalassemia: follow-up after radiotherapy.

CONTEXT: Spinal cord compression due to extramedullary hematopoiesis is a well-described but rare syndrome encountered in several clinical hematologic disorders, including beta-thalassemia. CASE REPORT: We report the case of a patient with intermediate beta-thalassemia and crural paraparesis due to spinal cord compression by a paravertebral extramedullary mass. She was successfully treated with low-dose radiotherapy and transfusions. After splenectomy, she was regularly followed up for over four years without transfusion or recurrence of spinal cord compression. DISCUSSION: Extramedullary hematopoiesis should be investigated in patients with hematologic disorders and spinal cord symptoms. The rapid recognition and treatment with radiotherapy can dramatically alleviate symptoms.