Anemia最新文献

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.

Introduction: Blood donation is not without risk to the donor. It results in a substantial loss of iron and decreased hemoglobin. In our country, no predonation assessment is carried out and the selection of blood donors is only clinical.

Objectives: To determine the prevalence of iron deficiency, anemia, and iron deficiency anemia and to identify the factors associated with anemia and iron status in a blood donor population at the National Center for Blood Transfusion (NCBT). Methodology. A prospective study is carried out that consists of 120 blood donors in three NCBT branches in the capital from June to November 2021. The donors were divided into 3 groups: first time donors (FTDs), occasional donors (ODs) who have already made between 1 and 3 previous donations, and regular donors (RDs) with at least 4 previous donations. Iron deficiency was defined by a serum ferritin value of less than 30 ng/mL in men and 20 ng/mL in women. Anemia was defined by Hb levels below 13 g/dL in men and 12 g/dL in women. Iron deficiency anemia was defined by association of anemia and iron deficiency. The chi-square test was used for the comparison of the proportions. The odds ratio with the 95% confidence interval was calculated to assess the association between two variables. The p value of the probability was considered significant for a value < 0.05.

Results: Mean serum ferritin and hemoglobin values were lower in RD in both sexes. The prevalence of iron deficiency, anemia, and iron deficiency anemia were 16.66%, 31.66%, and 10.83%, respectively. The factors associated with the three abnormalities were female sex, donor type, including RD, and number of previous donations.

Conclusion: Iron deficiency, anemia, and iron deficiency anemia are common among blood donors in Brazzaville. Anemia affects almost a third of blood donors and is not always linked to iron deficiency. Safety of donors should be improved by systematic measurement of ferritinemia and hemoglobin levels before allowing donations for appropriate management in the event of abnormalities.

Background: Anemia is the most common hematologic abnormality associated with human immunodeficiency virus (HIV)-infected patients and affects 60% to 80% of patients in late-stage disease. It has a considerable impact on the progression of HIV to advanced stages. This study aimed at assessing the burden of anemia in adult HIV-infected patients who are on highly active antiretroviral therapy (HAART) and have follow-up at Hawassa University Comprehensive Specialized Hospital (HUCSH) Antiretroviral therapy (ART) clinic.

Methods: A hospital-based retrospective study was conducted among HIV-positive adults on HAART at Hawassa University Compressive Specialized Hospital. The systematic sampling method was used to choose a total of 244 study participants. Data on demographic characteristics, related factors of anemia, latest hemoglobin, CD4, and ART regimens were collected using a structured data abstraction format. The data were cleaned and analyzed using SPSS version 21.0 after being manually checked for completeness. Multivariable logistic regression was carried out to detect elements associated with anemia. A P value of <0.05 was used as a cutoff point to announce statistical significance.

Results: The records of 244 patients were examined in total. Anemia was present in 29.9% (95% CI 23.8-35.2) among adult HIV patients. Female sex (AOR: 2.576, 95% (CI: 1.295-5.127)), having tuberculosis (TB) (AOR: 4.873, 95% (CI: 1.534-15.484)), taking a zidovudine (ZDV)-containing ART regimen (AOR: 5.216, 95% (CI: 1.239-21.962)), having clinical WHO stage IV and III diseases (AOR: 3.077, 95% CI (1.244-7.612)), having body mass index (BMI) <18.5 kg/m² (AOR: 2.391, 95% (CI: 1.138-5.023)), and taking cotrimoxazole prophylaxis (AOR: 3.860 95% (CI: 1.097-13.576)) were substantially linked to the development of anemia among adult HIV patients. Conclusion and Recommendation. This study showed that anemia is still a problem among HIV patients on HAART. The burden of anemia was found to be high among patients with advanced WHO clinical stages, having a BMI less than 18.5 kg/m², TB/HIV coinfection, being on AZT-based ART regimens, and taking cotrimoxazole preventive therapy (CPT). Consequently, it is suggested that early preventative interventions, such as serial hemoglobin follow-up, iron supplementation, and education about dietary consumption, be undertaken targeting the aforementioned groups. In addition, the preferred first-line ART regimen as per the latest national and WHO guidelines is recommended, especially for the above groups.

Introduction: Chronic hemolysis predisposes sickle cell patients to the development of gallstones. Their frequency increases with age, but they may appear early in young children. In the absence of management, they expose the patient to complications that can hinder the quality of life and sometimes even death. This survey aimed to identify the associated factors of the occurrence of cholelithiasis.

Materials and methods: It was a case-control study carried out between January 2017 and June 2022 at the National Reference Center for Sickle Cell Disease (SCD) "Antoinette Sassou N'guesso" in Brazzaville. It concerned 37 children with cholelithiasis. Sociodemographic (socioeconomic status and diet) and clinical (body mass index, frequency of vasoocclusive crises and hospitalization for vasoocclusive crises, number of blood transfusion, and chronic complications) as well as hematological examination (type of SCD and blood count in the intercritical period) and hydroxyurea treatment were compared with those of 74 children with no clinical and radiographic signs of cholelithiasis. The chi-squared statistical test and the odds ratio were used for the comparison (p  <  0.05).

Results: The average age was 9.70 ± 1.73 years. The 10-12 age group was the most represented (22 cases or 59.45%), followed by 7- to 9-year-olds (12 cases or 32.43%). Three children (8.10%) were 6  years old. The sex ratio was 0.68 vs. 1.38. Factors associated with cholelithiasis were low socioeconomic status (83.78% vs. 45.95%; IC 95% 1.46-3.89; p ≤ 0.001), a higher number of blood transfusions (5.54 ± 1.22 vs. 2.46 ± 1.13; IC 95% 1.55-6.70; p ≤ 0.001), and irregular systematic monitoring (5.54 ± 1.22 vs. 2.46 ± 1.13; IC 95% 1.55-6.70; p ≤ 0.001).

Conclusion: A national strategy to facilitate access to care for patients living with sickle cell disease is imperative. Moreover, emphasis should be placed on the prevention and early management of acute complications of SCD.

Background: Anemia in children is still an important public problem in China and can have a profound impact on the physical and mental health of children. The purpose of this study was to explore the risk factors for anemia among Chinese children aged 3-7 years old and to provide some basis for the prevention and control of anemia.

Methods: A matched case-control study was conducted and 1104 children (552 cases and 552 controls) were recruited in this study. Cases were children who were diagnosed with anemia by the doctor of physical examination and checked by one deputy chief physician of pediatrics, and controls were healthy children without anemia. Data were collected using a self-designed structured questionnaire. Univariable and multivariable analyses were used to identify independent determinants of anemia. P values less than 0.05 were used to declare statistical significance.

Results: In the multivariable analyses, maternal anemia before or during pregnancy and lactation (OR = 2.14, 95% CI: 1.10∼4.15; OR = 2.86, 95% CI: 1.66∼4.94; OR = 2.51, 95% CI: 1.13∼5.60), gestational weeks (OR = 0.72, 95% CI: 0.53∼0.96), having G6PD deficiency or thalassemia (OR = 8.12, 95% CI: 2.00∼33.04; OR = 36.25, 95% CI: 10.40∼126.43), having cold and cough in previous two weeks (OR = 1.56, 95% CI: 1.04∼2.34), family income (OR = 0.80, 95% CI: 0.65∼0.97), and being a picky eater (OR = 1.80, 95% CI: 1.20∼2.71) were determinants of anemia in children aged 3-7 years old.

Conclusions: Some of the identified factors are modifiable and could be targeted to reduce childhood anemia. More emphasis should be given by the concerned bodies to intervene in the anemia problem by improving the maternal health education, screening for disease-related anemia, requesting medical services in a timely manner, improving the economic status of households, promoting dietary habits, and improving sanitation and hygiene practices.

Introduction: Identifying the root causes of iron deficiency anaemia is a prerequisite for effective management and prevention in adolescents. This systematic review assessed risk factors of iron deficiency anaemia among adolescents living in developing countries.

Method: Electronic databases such as PubMed, Cochrane Library, Science Direct, Google Scholar, and SCOPUS were comprehensively searched for studies published between 1990 and 2020 that involved risk factors of iron deficiency anaemia among adolescents living in developing countries. The quality of the included studies was assessed using the American Dietetic Association Quality Criteria Checklist.

Results: A total of 2,252 publications were reviewed, and only fifteen cross-sectional studies were eligible for inclusion, eight of which focused on female adolescents and seven on both genders. Direct risk factors contributing to anaemia among adolescents included food intake practices (n = 10 studies), female adolescents (n = 8 studies), menstruation (n = 5 studies), and parasitic infection (n = 6 studies). Indirect risk factors found to be associated with anaemia among adolescents included low educational status (n = 4 studies) and low socioeconomic status (n = 3 studies). All fifteen studies were of good quality.

Conclusion: Food intake practices, female adolescents, menstruation, parasitic infection, and low educational status were the leading risk factors of iron deficiency anaemia among adolescents. Further research should concentrate on assessing the effectiveness and efficacy of existing interventions aimed at preventing iron deficiency among vulnerable groups in developing countries.

Introduction: The risk of developing transfusion-related complications, especially alloimmunization, is an ongoing concern for transfusion-dependent patients. It is important to determine the rate of alloimmunization and autoimmunization in Al-Ahsa Region, Saudi Arabia, where sickle cell disease (SCD) and thalassemia incidence rates are the highest in Saudi Arabia.

Methods: A cross-sectional study was conducted to review the transfusion history of patients with SCD and thalassemia at the King Fahad Hospital (KFH) in Al-Ahsa, Saudi Arabia. 364 transfusion-dependent patients were included in this study.

Results: Alloimmunization rates in patients with SCD and thalassemia were 16.7% and 11.97%, respectively, while autoimmunization rates in patients with SCD and thalassemia were 5.3% and 0.7%, respectively. The most frequent alloantibodies among the study participants were against Kell, Rh blood group systems.

Conclusion: Blood transfusion-related alloimmunization and autoimmunization compromise the proper management of chronically transfused patients. Ideally, extended matched phenotyping should be implemented to prevent alloimmunization and reduce the risk of developing blood transfusion-related alloantibodies.