Anemia最新文献

Background: Very few trials of hydroxyurea efficacy and safety have been conducted in sub-Saharan Africa. We aimed to evaluate the efficacy and safety of hydroxyurea and its utility in low-resource settings. Methods: We conducted a prospective comparative trial in patients with SCA. 128 patients were enrolled and divided into two groups. 68 patients were treated with hydroxyurea at a dose of 10-20 mg/kg/day and 62 patients in a control group without hydroxyurea. The endpoints evaluated were feasibility, safety, and benefit (laboratory variables, sickle cell-related events, transfusions). Results: The patients assigned to hydroxyurea treatment had a lower annual rate of crises than the control group (median 2.9 vs. 5.3 crises per year, p=0.001), a lower annual rate of hospitalizations (median 2.2 vs. 4.7, p=0.002), and a lower annual rate of transfusions (median 1.3 vs. 5.1, p=0.001). We observed a significant increase in Hb F from 11.77% to 14.6% (p=0.001) in patients treated with hydroxyurea. We also observed a significant increase in the mean Hb level from 7.3 g/dL to 9.2 g/dL in patients treated with hydroxyurea (p=0.004). Patients treated with hydroxyurea also have a beneficial effect on WBC and platelet levels by reducing leukocytosis and thrombocytosis. The annual number of infectious complications was significantly lower in the group of patients treated with hydroxyurea. Conclusion: Hydroxyurea has an important clinical benefit by reducing the incidence of vaso-occlusive events, infections, and transfusions, which translates into fewer hospitalizations. The main problem is that it is not accessible to most of our patients who live in poor socioeconomic conditions.

Beta-thalassemia exhibits a broad phenotypic range influenced by the severity of HBB mutation and various genetic modifiers. One of the most essential modifiers is the coinheritance of α-globin gene mutation. Nevertheless, the understanding of these α-globin variations' impact on beta-thalassemia is lacking among pediatric patients. This study investigated the impact of common α-globin gene mutations on clinical phenotype and hematological parameters in 122 Thai children with either β-thalassemia diseases or carriers recruited from Phramongkutklao Hospital, a major thalassemia center. Clinical characteristics, transfusion history, and hematological parameters were recorded, with molecular testing for common α-globin deletions and Hb CS mutations. The cohort included 8 homozygous β-thalassemia, 55 β-thalassemia/Hb E, 18 homozygous Hb E, 26 heterozygous Hb E, and 15 heterozygous β-thalassemia children. Coinheritance of α-globin mutations was less frequent in β-thalassemia diseases (6 of 63) than in β-thalassemia traits (25 of 59) (p < 0.001), indicating a potential modifier effect that reduces severity. Among β-thalassemia/Hb E patients, single α-globin deletions or Hb CS mutations were linked with lower Hb E, MCV, and MCH. Similarly, in both β-thalassemia and Hb E traits with α-globin gene mutation had significantly lower MCV, MCH and Hb E levels (only in the Hb E trait) and elevated RDW. Moreover, lower hematocrit and hemoglobin in these carriers were noted in cases coinherited with deletional Hb H disease initially undiagnosed by Hb typing. In conclusion, the diagnostic value of hematological parameters and Hb typing in identifying common α-globin mutations in pediatric β-thalassemia patients were highlighted. Hematological parameters are vital indicators that may prompt genetic screening to confirm α-globin abnormalities, supporting improved diagnosis and management of complex αβ-thalassemia syndromes.

Background and Objective: IDA and chronic headache disorders such as migraines and tension-type headaches are common conditions that significantly affect quality of life. Emerging evidence suggests a bidirectional relationship between these two conditions. This systematic review and meta-analysis aimed to explore and quantify the association between iron deficiency anemia (IDA) and chronic headache disorders, with a focus on understanding the bidirectional nature of this relationship. Methods: A comprehensive literature search was conducted across PubMed, Embase, and Web of Science to identify relevant studies published up until August 10, 2024. Observational studies examining the prevalence, incidence, or association between IDA and chronic headache disorders were included. Data were extracted and assessed for quality using the Newcastle-Ottawa Scale. Meta-analyses were performed using a random-effects model to calculate pooled prevalence rates and risk ratios (RRs), with heterogeneity assessed via the I ² statistic and meta-regression. A sensitivity analysis was conducted using the leave-one-out approach, and publication bias was evaluated through a funnel plot. Results: The meta-analysis included 13 studies: five studies examined chronic headaches among patients with IDA, and eight studies examined IDA among patients with chronic headaches. The pooled prevalence of chronic headaches among patients with IDA was 38% (95% CI: 15%-69%). In addition, 20% (95% CI: 10%-35%) of patients with chronic headaches were found to have IDA. Anemic patients were found to have a 76% higher risk of developing chronic headaches compared to nonanemic individuals (RR: 1.76; 95% CI: 1.22-2.52). Significant heterogeneity was observed across the studies. Conclusion: This meta-analysis demonstrates a significant association between IDA and chronic headache disorders, with a pooled prevalence of 38% for chronic headaches in IDA patients and 20% for IDA in chronic headache patients. IDA was associated with a 76% higher risk of chronic headaches. Routine screening for IDA in high-risk populations may improve headache outcomes, but further longitudinal studies are needed to establish causality and refine management strategies.

The effect of pretransfusion hemoglobin on transfusion burden, thrombosis, and mortality in thalassemia and myelodysplastic syndrome is unclear. We aimed to study the pretransfusion hemoglobin and erythrocyte transfusion burden and investigate the effects of these variables on each other in real-life in thalassemia and myelodysplastic syndrome. Adult patients with thalassemia and myelodysplastic syndrome who received at least one erythrocyte concentrate unit outpatient at Sanliurfa Mehmet Akif Inan Training and Research Hospital during 1 year were included in the study. The data were retrospectively obtained. Ethical approval was obtained for the study. Ninety-two patients were included in the study. In thalassemia major, pretransfusion hemoglobin ≥ 9 g/dL was associated with a lower median annual number of transfused erythrocyte concentrate units (15 vs. 27) and median annual number of transfusion sessions (11 vs. 14) p=0.002, p=0.009, respectively). In myelodysplastic syndrome, a pretransfusion hemoglobin level ≥ 8 g/dL was associated with a lower median annual number of transfused erythrocyte concentrate units (6 vs. 24) (p=0.016). In thalassemia major with an intact spleen, pretransfusion hemoglobin ≥ 8 g/dL was associated with an increased median annual number of transfused erythrocyte concentrate units (32 vs. 27) and median annual number of transfusion sessions (18 vs. 14) (p=0.046, p=0.038, respectively). In conclusion, higher pretransfusion hemoglobin levels were related to a lower transfusion burden in thalassemia major and myelodysplastic syndrome.

Introduction: Sickle cell emergencies are the most common cause of hospitalization for patients with sickle cell disease (SCD). Hospital readmissions represent a considerable financial burden for healthcare systems and increase patient morbidity and mortality. The aim of this study was to assess the prevalence and predictive factors of sickle cell emergencies readmission. Materials and Methods: We conducted a prospective, cross-sectional, descriptive, and analytical study over a 4-month period, including all adult patients admitted for an emergency related to SCD: vaso-occlusive crisis (VOC), acute chest syndrome (ACS), severe anemia, infections, priapism, and stroke. Readmission was considered when the patient returned to the emergency within a period of <30 days, either due to recurrence, persistence of the same complication, or the occurrence of another acute complication related to SCD. Results: We recorded 151 sickle cell emergencies for 112 patients, representing 0.33 emergencies/month/patient. Fifty-eight cases of readmission were recorded, resulting in a readmission rate of 38.41%. Among these patients, 53 (91.37%) had two admissions, and 5 (8.62%) had three admissions. The median age of the patients was 28.41 years (16-70 years), and the sex ratio was 0.57. The SS sickle cell phenotype was predominant in 97 patients (86.61%). The reasons for readmission were VOC (82.75%), ACS (13.72%), and severe anemia (3.44%). The main factors that predicted readmission were the existence of professional activity, a low fetal hemoglobin (HbF) level, the existence of neutrophilia, lymphocytosis, and/or thrombocytosis (p values of 0.0084, 0.043, and 0.020 respectively). Conclusion: The 30-day readmission rate after a sickle cell emergency is high in our study. The main factors that predicted readmission were the existence of professional activity, a relatively low level of fetal Hb, the existence of neutrophilia, lymphocytosis, and/or thrombocytosis.

Background: Anemia is one of the most common nutritional deficiency disorders affecting pregnant women; its prevalence in developed countries is 14% and in developing countries 51%. It is therefore important to understand the prevalence and associated factors of anemia in our study area. This will encourage antenatal caregivers to identify and treat anemia early in pregnancy. Objective: Therefore, the study's goal was to determine the prevalence of anemia and its contributing factors among pregnant women receiving prenatal care. Methods: Between April 2021 and May 2021, 295 pregnant women attending prenatal care participated in a cross-sectional facility-based study. Epidata software was used to enter the data, which were then exported to SPSS software for Windows version 23 for analysis. To determine the factors contributing to anemia in pregnant women, descriptive statistics collected with the study were performed together with bivariable logistic regression and the log-binomial model. Results: Among the 295 study participants, 24.7% were anemic. Out of these, most were mild types 78.1%. Illiterate pregnant women (ARR 2.89; 95% CI: 1.76-6.43, p value = 0.037), with no iron-containing food intake per day (ARR 1.74; 95% CI: 1.59-1.95, p value = 0.01), and infected with malaria (ARR 1.58; 95% CI: 1.76-2.53, p value = 0.03) had higher odds of being anemic, compared to their counterpart. Gestational age of the first (ARR 0.21; 95% CI: 0.03-0.98, p value = 0.01), and second (ARR 0.8; 95% CI: 0.43-0.96, p value = 0.013) trimester has lower odds of being anemic compared to their counterpart. Conclusion: Anemia in pregnant women is found to be a moderate public health issue in the research location. It is strongly and independently impacted by malaria infection and iron-containing meal consumption. Reducing the prevalence of anemia is made possible by improved iron-containing meal consumption. In addition, it is strongly advised that pregnant women receive education and should take iron supplements during pregnancy visits.

Sickle cell anemia (SCA) results from a mutation in the β-globin gene, leading to the production of mutant hemoglobin, known as hemoglobin S (HbS). Despite being a genetic disorder, the phenotype of SCA can be influenced by the level of fetal hemoglobin (HbF), which is associated with beta S-globin haplotypes. In this study, we conducted newborn screening (NBS) using samples collected from umbilical cord blood in two hospitals on Santiago Island, Cape Verde. In newborns, HbS was detected using high-performance liquid chromatography (HPLC) on dried blood spot, with confirmation through polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP). In addition, we assessed the hematological and clinical characteristics of a second population group consisting of patients diagnosed with SCA. Haplotype determination was performed on both newborns with HbS and patients with SCA. Beta S-globin haplotypes were determined using PCR-RFLP. Hematological values were analyzed using standard methods. Out of 346 newborns, 21 (6%) were carriers of the sickle cell trait (HbAS) while none were identified as homozygous for sickle cell disease (HbSS). Among both groups of individuals, four haplotypes were identified: Senegal, Arabi-Indian, Bantu, and Benin. The Senegal haplotype was the most prevalent, possibly reflecting the ethnic origin of the mutations observed. Hematological values did not differ significantly among haplotypes. However, higher levels of HbF were associated with better hematological values. These findings suggest a positive impact of elevated HbF levels on reducing the severity of SCA. Finally, we demonstrated how the combination of technics, HPLC and molecular analysis, provided a consistent and reproducible results that can be used for NBS for SCA.

Sickle cell anemia has been classified as a noninfectious neglected tropical disease and, although not exclusively, affects African descendants more frequently. This study aimed to detect asymptomatic sickle cell hemoglobin carriers (HbAS) in marginalized and vulnerable populations during a public health screening in African descendants from Oaxaca, Mexico, and to validate an amplification refractory mutation system (ARMS)-PCR methodology to detect fetal-hemoglobin (HbF)-regulating genetic variants in BCL11A toward affordable routine association of single nucleotide variants (SNVs) with HbF concentrations. To this aim, hemoglobin variants were detected by acidic citrate agar and alkaline cellulose acetate electrophoreses. SNVs in the hemoglobin subunit beta gene (HBB) were identified by the β-globin mutation detection assay (β-GMDA) and ARMS-PCR, respectively, and validated by Sanger sequencing. The association between genotypes and HbF concentrations was evaluated using Spearman's correlation coefficient. The results obtained during a directed screening in 140 self-identified African descendants revealed 42 HbS-carriers (30%), of which 39 showed normal total hemoglobin concentrations (92.8%), only 3 presented anemia (7.2%), and 9 showed quantifiable HbF concentration (21.4%). As validated by Sanger sequencing, the designed ARMS-PCR efficiently detected homozygous and heterozygous variants in BCL11A. In a cohort of 42 heterozygous (HbAS) and 27 healthy (HbAA) individuals from the same population, only one SNV (rs766432) showed statistically significant association with increasing HbF concentration, and two new unrelated homozygous silent variants were identified. This study reveals the need to raise coverage of HbS screening in vulnerable populations and shows a feasible low-cost ARMS-PCR methodology to determine the presence of SNVs in quantitative trait loci affecting HbF.

Aim: Sickle cell disease has witnessed a 41.4% surge from 2000 to 2021, significantly affecting morbidity and mortality rates, particularly in children from regions with elevated under-5 mortality rates. Gut microbiota dysbiosis is increasingly recognised in SCD, exacerbating complications, particularly chronic pain, marked by significant alterations of proinflammatory bacteria abundance. This review explores the therapeutic potential of Akkermansia muciniphila and Roseburia spp. in alleviating SCD-related complications, emphasising their roles in maintaining gut barrier integrity, reducing inflammation, and modulating immune responses.

Method: A literature search up to November 2023 using PubMed, MEDLINE, and Google Scholar databases explored SCD pathophysiology, gut microbiota composition, Akkermansia muciniphila and Roseburia spp. abundance, pain and gut dysbiosis in SCD, and butyrate therapy.

Result: A. muciniphila and Roseburia spp. supplementation shows promise in alleviating chronic pain by addressing gut dysbiosis, offering new avenues for sustainable SCD management. This approach holds the potential for reducing reliance on reactive treatments and improving overall quality of life. This research underscores the pivotal role of the gut microbiome in SCD, advocating for personalised treatment approaches.

Conclusion: Further exploration and clinical trials are needed to harness the full potential of these gut bacteria for individuals affected by this challenging condition.

Introduction: Paediatric HIV and sickle cell disease (SCD) are two stigmatising and potentially fatal illnesses that place a significant burden on families. HIV patients benefit from a longstanding free-service national programme in Cameroon, and this could considerably alleviate burden of care on HIV caregivers, possibly leading to better quality of life (QoL) in HIV caregivers compared to SCD caregivers. Our study aimed to compare the QoL between caregivers of children and adolescents with SCD and HIV and explore factors associated with this QoL in Cameroon.

Methods and materials: We conducted a hospital-based cross-sectional analytic study at Douala Laquintinie Hospital from February to May 2023. A questionnaire was administered to caregivers of paediatric patients (≤18 years) with SCD and HIV. The Pediatrics Quality of Life-Family Impact Module (PedsQL FIM), the 7-item Generalized Anxiety Disorder (GAD-7), and the 9-item Patient Health Question (PHQ-9) tools were used as measures of quality of life, anxiety, and depression, respectively. Multivariable linear regression was used to determine factors associated with quality of life. A significance level was set at p < 0.05.

Results: We included 199 caregivers: SCD = 104 and HIV = 95. The mean age of caregivers in our sample was 40.47 ± 10.18 years. Caregivers of paediatric patients with HIV had a better mean quality of life than SCD (93.01 ± 7.35SD versus 64.86 ± 9.20SD, p < 0.001). PHQ-9 score (B = -1.52, 95% CI = [-2.08; -0.96], p=<0.001), GAD-7 score (B = -1.46, 95% CI = [-2.09; -0.83], p=<0.001), spending less than 75 000 FCFA on medications monthly (B = 12.13, 95% CI = [5.73; 18.94], p=<0.001), and being a SCD caregiver (B = -11.62, 95% CI = [-18.46; -4.78], p=0.001) were factors independently associated with quality of life on multivariable analysis.

Conclusion: Quality of life is lower in caregivers of children and adolescents with SCD than with HIV. Preventing depression and anxiety as well as advocating for the subsidization of medications through a national SCD program may improve quality of life in SCD caregivers.