Male sickle cell patients, compensated transpubertal hypogonadism and normal final growth.

OBJECTIVE: Investigate the gonadal hormonal function in sickle cell individuals. CONTEXT: Sickle cell disease (SCD) is associated with delayed physical and sexual development, and it has been related to both primary testicular failure and hypothalamo-pituitary-gonadal axis abnormalities. DESIGN: The study of the pituitary gonadotrophin reserve was done evaluating the hormonal levels before and after stimulation by gonadoliberin. PATIENTS: Male patients with homozygous SCD (18-39 years, median = 29.5 years). MEASUREMENTS: Gonadal function was evaluated through clinical parameters and the hormonal quantification. RESULTS: Although low body weight and other clinical signs of undernutrition such as clinical hypoandrogenism and the extreme retardation of puberty were seen in these patients, final stature and hormonal testicular reserve to hCG stimulation were proved to be normal according to our previous data. In the present investigation, the basal luteotropic gonadotropin (LH), follicle-stimulating hormone (FSH) and testosterone (T) levels were similar between the patients and controls. Prostate-specific antigen (PSA) levels-used as a biochemical marker of androgenicity, mainly in puberty-were lower in the patients than in the controls and were only correlated with T. A subtle abnormality in the pituitary responsivity to gonadotropin-releasing hormone (GnRH) was disclosed, with a higher response to LH 60 minutes after stimulation in patients than in controls. CONCLUSIONS: These data, in addition to both the clinical and biochemical signs of hypoandrogenism associated with normal to elevated T levels strongly suggest a peripheral origin of hypogonadism, which is probably due to androgen resistance in the patients with SCD.

Frequency of red blood cell genotypes in multi-transfused patients and blood donors from Minas Gerais, Southeast Brazil.

BACKGROUND AND OBJECTIVES: The frequency of red blood cell (RBC) antigens in Brazil varies due to differences in the ethnic groups in different regions; however, these studies have not been performed in Minas Gerais, where African admixture is more prevalent in comparison with other states. Due to these facts, this study aimed to determine the frequency of RBC genotypes on Rh, Kell, Duffy and Kidd systems in blood donors and multi-transfused patients from Minas Gerais, Southeast Brazil. METHODS: Blood samples were collected from 170 donors and 117 patients with different diagnosis and at least three RBC transfusions. DNA was extracted from leukocytes and genotyped by PCR-SSP, Multiplex or RFLP to alleles of the referred systems. The results were compared by the Chi-Square test, with a significance level of 5%. RESULTS: The most frequent genotypes were: RHD+, RHCE*ce/RHCE*ce, KEL*2/KEL*2, FY*B-67T/FY*B-67T and JK*A/JK*B. FY*B-67C/FY*B-67C, RHD*Ψ and JK*A/JK*A genotypes were more prevalent in sickle cell disease (SCD) patients than in donors. Many differences in RBC genotype frequencies were observed in comparison with studies from other states and countries. CONCLUSION: The results reinforce the importance of determining RBC genotypes of blood donors and patients in different regions of Brazil and the world, improving the transfusion safety of individuals requiring chronic RBC transfusions, especially those with SCD, due to ethnic differences in relation to donors.

Impaired pubertal development and testicular hormone function in males with sickle cell anemia.

Changes in weight/height ratio, delayed sexual maturation, hypogonadism and impaired fertility have been demonstrated in sickle cell disease (SCD). This study aimed to evaluate the clinical and laboratory views of the Leydig cells function after stimulation with hCG in adults with sickle cell disease. We studied 15 patients with SCD (18 to 40 years; median=27 years old), fourteen homozygous S, and one with SC disease. The control group, composed by adult males, was divided into two groups: I - 10 relatives (18-39 years, median=26 years) with the same socioeconomic level of the patients, and II - 9 normal individuals (23-28, median=31 years) randomly chosen. Clinically it was observed a slight degree of malnutrition, important puberty delay, rarefaction of chest, underarm and pubic hair, and important reduction of the testis and penis size, featuring a mild hypogonadism in patients with SCD. The hormonal level assessment of testosterone at baseline and at 24, 48 and 72 h after hCG stimulation showed no significant differences between the groups studied. We can presume that adult men with SCD showed clinical hypoandrogenism with normal testicular hormonal function, a fact inconsistent with the hypothesis of primary hypogonadism.

Sensitivity to cisplatin-induced mutations and elevated chromosomal aberrations in lymphocytes from sickle cell disease patients.

Sickle cell disease (SCD) is an inherited disorder caused by a single nucleotide substitution in the beta-globin gene. The clinical heterogeneity observed in SCD patients has been attributed to environmental and genetic factors. The patients are subjected to increased oxidative stress, particularly during vaso-occlusive crises and acute chest pain. Another possible cause of oxidative stress in SCD is the high concentration of iron in the patients' plasma. The increase in oxidative stress could be a relevant risk factor for mutagenesis and carcinogenesis. Studies on the frequency of basal chromosomal aberrations in cultured lymphocytes from SCD patients have not been reported so far. In order to contribute to the understanding of the role of the different biomarkers and their relationship with the extremely variable clinical manifestation of SCD, we investigated the frequency of chromosome damage in peripheral lymphocytes from sickle cells patients and healthy controls. We found an increased frequency of chromosome damage and percentage of aberrant metaphases in these patients when compared with control subjects, even at basal values (p<0.05). In the cytogenetic sensitivity assay, the results showed that these patients presented a marked decrease in the mitotic index values compared with healthy controls. Cisplatin-induced chromosomal damage in lymphocytes from these patients was significantly higher than the frequency measured in healthy controls. The results obtained in the present study showed that more investigations are needed in order to elucidate the susceptibility to genomic instability of SCD patients.

Clinical and epidemiological profile of alloimmunized and autoimmunized multi-transfused patients against red blood cell antigens in a blood center of Minas Gerais.

BACKGROUND: The large diversity of red blood cell antigens favors, especially in multi-transfused patients, the occurrence of autoimmunization and alloimmunization with the risk of hemolytic transfusion reactions. Thus, this study aimed to determine the rates of alloimmunization and autoimmunization in these individuals, as well as the types of alloantibodies and their systems, clinical and epidemiological aspects and the frequency of autoimmunity in alloimmunized and non-alloimmunized patients. METHODS: In a retrospective study, 153 multi-transfused patients from 2006 to 2014 were evaluated. Sixty-eight had onco-hematological diseases, 64 had hemoglobinopathies and 21 had chronic renal failure. Descriptive analyses were carried out with the proportions being compared using the chi-square test, with the significance level set at 5%. RESULTS: The Rh system was the most frequently involved (53.11%) and anti-E and anti-K (Kell system) were the most prevalent alloantibodies (21.87% each). Autoantibodies were found in ten patients (6.54%) with the percentages of autoimmunization in alloimmunized and non-alloimmunized individuals being 29.16% and 2.32%, respectively (p = 0.0001). There was a significant difference between autoimmunization and the number of transfusions (16.21% in 6-10 vs. 5.26% <6 vs. 2.56% >10; p = 0.0203) and diseases (19.04% in chronic renal failure vs. 6.25% in hemoglobinopathies vs. 2.94% in onco-hematological diseases; p = 0.0329). CONCLUSION: The results show a strong correlation between alloimmunization and autoimmunization. Moreover, they reinforce the need for further studies on the clinical and epidemiological profile of multi-transfused patients in relation to alloimmunity and autoimmunity, especially the latter, for a better understanding of its etiopathogenesis and physiopathogenesis.

Cholelithiasis and its complications in sickle cell disease in a university hospital.

INTRODUCTION: The clinical manifestations of sickle cell disease are related to the polymerization of hemoglobin S. The chronic hemolysis caused by this condition often causes the formation of gallstones that can migrate and block the common bile duct leading to acute abdomen. OBJECTIVE: This study aimed to evaluate the profile of patients with sickle cell disease and cholelithiasis. METHODS: Patients with sickle cell disease were separated into groups according to the presence or absence of cholelithiasis. Socioepidemiological and clinical characteristics, such as gender, age, use of hydroxyurea and the presence of other hemoglobinopathies were researched in the medical records of patients. RESULTS: A hundred and seven patients with sickle cell anemia were treated at the institution. Of these, 27 (25.2%) had cholelithiasis. The presence of cholelithiasis was higher in the 11-29 age group than in younger than 11 years and over 29 years. No association was found for the presence of cholelithiasis with gender, use of hydroxyurea or type of hemoglobinopathy (hemoglobin SS, hemoglobin SC or sickle beta-thalassemia). Sixteen of the patients had to be submitted to cholecystectomy with 14 of the surgeries being performed by laparoscopy. Complications were observed in three patients and one patient died for reasons unrelated to the surgery. CONCLUSION: A quarter of patients with sickle cell disease had gallstones, more commonly in the 11- to 29-year age range. Patients should be monitored from childhood to prevent cholelithiasis with preoperative, intra-operative and postoperative care being crucial to reduce the risk of complications in these patients.

Hemoglobinopathies in newborns in the southern region of the Triângulo Mineiro, Brazil. Cross-sectional study.

CONTEXT AND OBJECTIVE: Hemoglobinopathies are among the commonest and most widespread genetic disorders worldwide. Their prevalence varies according to ethnic composition and/or geographical region. The aim of this study was to investigate the presence of hemoglobinopathies and their association with ethnicity among 1,004 newborns, to confirm the guideline of the Brazilian National Neonatal Screening Program. DESIGN AND SETTING: Cross-sectional study conducted in a public referral hospital in the Triângulo Mineiro region, Minas Gerais, Brazil. METHODS: Qualitative assessment of hemoglobin was performed through electrophoresis on cellulose acetate: at alkaline pH to identify the hemoglobin (Hb) profile and at acid pH to differentiate Hb S from Hb D and Hb C from Hb E and others that migrate to similar positions at alkaline pH. Neutral pH was used to detect Hb Bart's identified in alpha thalassemia (α-thal). The elution method after electrophoresis was used to quantitatively assess hemoglobins. RESULTS: There was predominance of α-thal, with 105 cases (10.46%), followed by Hb S with 61 cases (6.08%, comprising 46 Hb AS, 2 Hb SS and 13 Hb S/α-thal), 9 cases (0.9%) of Hb AC and 6 cases (0.6%) suggestive of beta thalassemia (ß-thal). The frequency of hemoglobinopathies was significantly higher among Afro-descendants. CONCLUSIONS: These findings corroborated of the National Neonatal Screening Program for diagnosing sickle cell disease and Hb C, Hb D, Hb E and ß-thal hemoglobinopathies.

Sexuality and sickle cell anemia.

BACKGROUND: Sickle cell disease, the most common hereditary blood disease in the world, is the result of an atypical hemoglobin called S (Hb S) which, when homozygous (Hb SS) is the cause of sickle cell anemia. Changes of puberty, correlated with a delayed growth spurt, begin late in both male and female sickle cell anemia individuals with repercussions on sexuality and reproduction. The objectives of this exploratory and descriptive study were to characterize the development of sexuality in adults with sickle cell anemia by investigating the patient's perception of their sex life, as well as the information they had and needed on this subject. METHODS: Twenty male and female sickle cell anemia patients treated at the Hemocentro Regional de Uberaba (UFTM) with ages between 19 and 47 years old were enrolled. A socioeconomic questionnaire and a semi-structured interview on sexuality, reproduction and genetic counseling were applied. RESULTS: This study shows that the sickle cell anemia patients lacked information on sexuality especially about the risks of pregnancy and the possible inheritance of the disease by their children. Moreover, the sexual life of the patients was impaired due to pain as well as discrimination and negative feelings experienced in close relationships. CONCLUSION: The health care of sickle cell anemia patients should take into account not only the clinical aspects of the disease, but also psychosocial aspects by providing counseling on sexuality, reproduction and genetics, in order to give this population the possibility of a better quality of life.

The importance of hemovigilance in the transmission of infectious diseases.

BACKGROUND: Hemovigilance is an organized system of surveillance throughout the transfusion chain intended to evaluate information in order to prevent the appearance or recurrence of adverse reactions related to the use of blood products. OBJECTIVE: The aims of this study were to assess the late reporting of incidents related to possible seroconversion in respect to age, marital status and ethnical background, annual variations in late reporting, the number of reports opened and closed, seroconversion of donors and transfusions of blood products within the window period. METHODS: This retrospective, descriptive study used data on blood donations in the blood bank in Uberaba during the period from 2004 to 2011. Some socio-epidemiological characteristics of the donors and serology test results of donors and recipients were analyzed in respect to the late reporting of incidents related to possible seroconversion. The Chi-square test, odds ratio and a regression model were used for statistical analysis. RESULTS: From 2004 to 2011, the blood bank in Uberaba collected 117,857 blood bags, 284 (0.24%) of which were investigated for late reported incidents. The profile of the donors was less than 29 years old, unmarried and non-Whites. Differences in age (p-value < 0.0001), marital status (p-value = 0.0002) and ethnical background (p-value < 0.0001) were found to be statistically significant. There was no statistical difference between men and women (0.24% and 0.23% respectively; p-value = 0.951). The number of late reported incidents increased until 2008 followed by a downward trend until 2011. There were twelve cases of seroconversion in subsequent donations (seven human immunodeficiency virus, four hepatitis B and one hepatitis C) with proven human immunodeficiency virus infection after screening of only one recipient. CONCLUSION: The twelve cases of seroconversion in donors with subsequent infection proven in one recipient underscores the importance of this tool to increase transfusion safety.

Clinical and epidemiological profile of alloimmunized and autoimmunized multi-transfused patients against red blood cell antigens in a blood center of Minas Gerais

ABSTRACT Background: The large diversity of red blood cell antigens favors, especially in multi-transfused patients, the occurrence of autoimmunization and alloimmunization with the risk of hemolytic transfusion reactions. Thus, this study aimed to determine the rates of alloimmunization and autoimmunization in these individuals, as well as the types of alloantibodies and their systems, clinical and epidemiological aspects and the frequency of autoimmunity in alloimmunized and non-alloimmunized patients. Methods: In a retrospective study, 153 multi-transfused patients from 2006 to 2014 were evaluated. Sixty-eight had onco-hematological diseases, 64 had hemoglobinopathies and 21 had chronic renal failure. Descriptive analyses were carried out with the proportions being compared using the chi-square test, with the significance level set at 5%. Results: The Rh system was the most frequently involved (53.11%) and anti-E and anti-K (Kell system) were the most prevalent alloantibodies (21.87% each). Autoantibodies were found in ten patients (6.54%) with the percentages of autoimmunization in alloimmunized and non-alloimmunized individuals being 29.16% and 2.32%, respectively (p = 0.0001). There was a significant difference between autoimmunization and the number of transfusions (16.21% in 6-10 vs. 5.26% <6 vs. 2.56% >10; p = 0.0203) and diseases (19.04% in chronic renal failure vs. 6.25% in hemoglobinopathies vs. 2.94% in onco-hematological diseases; p = 0.0329). Conclusion: The results show a strong correlation between alloimmunization and autoimmunization. Moreover, they reinforce the need for further studies on the clinical and epidemiological profile of multi-transfused patients in relation to alloimmunity and autoimmunity, especially the latter, for a better understanding of its etiopathogenesis and physiopathogenesis.

Prevalence of Chagas disease in blood donors at the Uberaba Regional Blood Center, Brazil, from 1995 to 2009.

INTRODUCTION: A retrospective study was conducted to assess the occurrence of blood donations that were ineligible due to Chagas disease infection from 1995 to 2009 at the Uberaba Regional Blood Center (HRU), Brazil, verify the tendency of this ineligibility, and describe the epidemiologic profile of the donors. METHODS: Retrospective studies of serological ineligibility due to Chagas disease, statistical analysis by means of the chi-square test and odds ratio, study of the tendencies using a dispersion graph and the linear correlation coefficient (r) were performed. RESULTS: In the period under study, a 0.2% serum prevalence of ineligibility due to Chagas disease was found, with a significant drop in ineligible donations from 2001 to 2009. Among the serum positive-donors, there was a significant predominance among those aged 30 years or above and non-single individuals. CONCLUSIONS: The results show a rate of occurrence that is lower than that described in literature, as well as a progressive drop during the 15 years under assessment. Such results are a consequence of systematic combat of the vector since the 70s and the progressive and consistent increase of returning donors, resulting in a drop of the contamination risk factor by means of blood transfusion and in the improvement of the quality of hemotherapy practices in the HRU.

Alloimmunization screening after transfusion of red blood cells in a prospective study.

BACKGROUND: Several irregular red blood cell alloantibodies, produced by alloimmunization of antigens in transfusions or pregnancies, have clinical importance because they cause hemolysis in the fetus and newborn and in transfused patients. OBJECTIVE: a prospective analysis of patients treated by the surgical and clinical emergency services of Hospital de Clínicas of the Universidade Federal do Triângulo Mineiro (HC/UFTM), Brazil was performed to correlate alloimmunization to clinical and epidemiological data. METHODS: Blood samples of 143 patients with initial negative antibody screening were collected at intervals for up to 15 months after the transfusion of packed red blood cells. Samples were submitted to irregular antibody testing and, when positive, to the identification and serial titration of alloantibodies. The Fisher Exact test and Odds Ratio were employed to compare proportions. RESULTS: Fifteen (10.49%) patients produced antibodies within six months of transfusion. However, for 60% of these individuals, the titers decreased and disappeared by 15 months after transfusion. Anti-K antibodies and alloantibodies against antigens of the Rh system were the most common; the highest titer was 1:32 (anti-K). There was an evident correlation with the number of transfusions. CONCLUSIONS: Given the high incidence of clinically important red blood cell alloantibodies in patients transfused in surgical and clinical emergency services, we suggest that phenotyping and pre-transfusion compatibilization for C, c, E, e (Rh system) and K (Kell system) antigens should be extended to all patients with programmed surgeries or acute clinical events that do not need emergency transfusions.

Cholelithiasis and its complications in sickle cell disease in a university hospital

Abstract Introduction: The clinical manifestations of sickle cell disease are related to the polymerization of hemoglobin S. The chronic hemolysis caused by this condition often causes the formation of gallstones that can migrate and block the common bile duct leading to acute abdomen. Objective: This study aimed to evaluate the profile of patients with sickle cell disease and cholelithiasis. Methods: Patients with sickle cell disease were separated into groups according to the presence or absence of cholelithiasis. Socioepidemiological and clinical characteristics, such as gender, age, use of hydroxyurea and the presence of other hemoglobinopathies were researched in the medical records of patients. Results: A hundred and seven patients with sickle cell anemia were treated at the institution. Of these, 27 (25.2%) had cholelithiasis. The presence of cholelithiasis was higher in the 11–29 age group than in younger than 11 years and over 29 years. No association was found for the presence of cholelithiasis with gender, use of hydroxyurea or type of hemoglobinopathy (hemoglobin SS, hemoglobin SC or sickle beta-thalassemia). Sixteen of the patients had to be submitted to cholecystectomy with 14 of the surgeries being performed by laparoscopy. Complications were observed in three patients and one patient died for reasons unrelated to the surgery. Conclusion: A quarter of patients with sickle cell disease had gallstones, more commonly in the 11- to 29-year age range. Patients should be monitored from childhood to prevent cholelithiasis with preoperative, intra-operative and postoperative care being crucial to reduce the risk of complications in these patients.

[Decline in the prevalence of HTLV-1/2 among blood donors at the Regional Blood Center of the City of Uberaba, State of Minas Gerais, from 1995 to 2008]. / Declínio da prevalência do HTLV-1/2 em doadores de sangue do Hemocentro Regional da Cidade de Uberaba, Estado de Minas Gerais, 1995 a 2008.

INTRODUCTION: A retrospective study was conducted in order to assess the prevalence and factors associated with seropositivity for HTLV-1/2 between 1995 and 2008 in Uberaba Regional Blood Center, and to describe the seropositive blood donors in relation to gender, age, marital status, skin color and origin. METHODS: Descriptive statistical analysis, chi-square tests and odds ratios were produced to compare proportions, along with scatter charts with linear correlation coefficients. RESULTS: Among the donors tested, the prevalence of seropositivity for HTLV was found to be 0.02%, with indeterminate results in 0.09%. There was a significant reduction in seropositivity for HTLV between 2002 and 2008, compared with the period from 1995 to 2001. Among the seropositive individuals, females were significantly predominant. CONCLUSIONS: The gradual decrease in seropositivity over this period was attributed to the permanent exclusion of seropositive repeat donors and improvement in the clinical screening methods and serological tests over the years, with a positive impact on transfusion safety.

Epidemiological profile of hepatitis C in blood donors at the Uberaba Regional Blood Center.

The aim of the present study was to outline the serological profile of hepatitis C among blood donors seen at the Uberaba Regional Blood Center, Hemominas Foundation, over the last 14 years. The frequency of hepatitis C was compared between first-time and repeat donors and the epidemiological characteristics of those with positive and indeterminate ELISA anti-HCV (third and fourth generation) were analyzed based on the donor histories kept in the archives of the Uberaba Regional Blood Center. The serological ineligibility rate was 0.3%, with higher prevalence in the group of first-time donors. We did not find any significant differences regarding age, skin color, marital status or place of residence between eligible and ineligible donors; however, the frequency of positive serology was higher among men. The lower (0.3%) rate of ineligibility due to hepatitis C that was observed at the Uberaba Regional Blood Center, in relation to most Brazilian blood centers, is probably due to the large number of repeat donors (83.3%). This reinforces the importance of achieving donor commitment for increasing transfusion safety.

Sexuality and sickle cell anemia

BACKGROUND: Sickle cell disease, the most common hereditary blood disease in the world, is the result of an atypical hemoglobin called S (Hb S) which, when homozygous (Hb SS) is the cause of sickle cell anemia. Changes of puberty, correlated with a delayed growth spurt, begin late in both male and female sickle cell anemia individuals with repercussions on sexuality and reproduction. The objectives of this exploratory and descriptive study were to characterize the development of sexuality in adults with sickle cell anemia by investigating the patient's perception of their sex life, as well as the information they had and needed on this subject. METHODS: Twenty male and female sickle cell anemia patients treated at the Hemocentro Regional de Uberaba (UFTM) with ages between 19 and 47 years old were enrolled. A socioeconomic questionnaire and a semi-structured interview on sexuality, reproduction and genetic counseling were applied. RESULTS: This study shows that the sickle cell anemia patients lacked information on sexuality especially about the risks of pregnancy and the possible inheritance of the disease by their children. Moreover, the sexual life of the patients was impaired due to pain as well as discrimination and negative feelings experienced in close relationships. CONCLUSION: The health care of sickle cell anemia patients should take into account not only the clinical aspects of the disease, but also psychosocial aspects by providing counseling on sexuality, reproduction and genetics, in order to give this population the possibility of a better quality of life.