Anemia

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.

Background. Anemia has a negative impact on school children, including poor physical growth and reduced mental performance. Children show poor attentiveness, behavior, and memory and reduced school performance. There is limited evidence of the magnitude of anemia and associated factors in school-age children in Ethiopia, including the study area. Objective. To assess the magnitude of anemia and associated factors among public elementary school children in Asella Town, Southeast Ethiopia, in 2022. Methods. A school-based cross-sectional study was conducted in Asella Town from April 5 to May 5, 2022. A total of 442 school children aged 7–14 years were included in the study using the multistage sampling method. Data were collected using a pretested and semistructured questionnaire through a face-to-face interview technique. The hemoglobin concentration was determined by using the HemoCue 301+ analyzer. Anthropometric data and stool examinations were collected from participants. Data were entered into EpiData version 4.6, transported, and analyzed by Statistical Package for Social Sciences version 26. Bivariable and multivariable logistic regression analyses were carried out. Adjusted odds ratios along with their 95% confidence interval were used, and a value of ≤0.05 was used for declaring statistical significance. Results. A total of 435 students with a mean age and standard deviation of 10.77 ± 2.21 years participated in the study. The magnitude of anemia was 78 (17.9%), with a 95% CI (14.3, 21.47). Of the participants, 63 (14.5%) were mild anemic and 15 (3.4%) were moderately anemic. Children whose mothers have no formal education (AOR = 3.94, 95% CI: 1.89, 8.21), underweight children (AOR = 3.83, 95% CI: 1.98, 7.40), and parasites in their stool (AOR = 3.72, 95% CI: 1.50, 9.20) were significantly associated with anemia in school-age children. Conclusion. Anemia among school-age children was found to be a mild public health problem. Uneducated mothers, intestinal parasite infections, and underweight children were found to be determinants of anemia among school-age children. Health professionals should provide health education for mothers about child-feeding practices and the consumption of dietary sources of iron.

Background. Anemia, a global health concern, affects one-fourth of the global population, particularly women. In Indonesia, its prevalence is 23.7%, with 32.0% among 15-24 year-olds. Factors include poor nutrition, infectious diseases, chronic diseases, inherited disorders, and inadequate healthcare access. This study aimed to investigate anemia prevalence and its etiology among medical students from Jakarta. Methods. This study was a descriptive research with a cross-sectional approach. Undergraduate students aged 18–23 years old were selected and consented to participate by a consecutive nonrandom sampling methods. Laboratory blood data were evaluated (including Hb, MCV, MCH, HbA₂, and ferritin levels) and DNA was isolated to confirm the type of thalassemia carrier. Results. In total, 140 medical students, mainly female, were recruited. Anemia was found in 13.6% (11.4% had low MCV and/or MCH), and 16.5% had low MCV and/or MCH without anemia. Hb electrophoresis revealed high HbA₂ values, suggesting the HbE variant (2.1%), and β-thalassemia carrier (0.7%). DNA analysis confirmed the cd26 mutation and heterozygous IVS1nt5. Among those without anemia, 5% had α-deletion, while in the group with anemia, 1.4% had α-deletion (with coexistent IDA), 3.6% had α-deletion, and 0.7% had β-mutation. Conclusion. DNA analysis can identify specific mutations associated with alpha-thalassemia, distinguishing between iron deficiency anemia and the alpha-thalassemia trait. Thalassemia screening should involve low MCV and/or MCH values as the first step (stage 1), followed by Hb analysis (stage 2) and DNA analysis (stage 3). In common areas, a combination of Hb and DNA testing is best. However, healthcare professionals must diagnose and treat thalassemia, as proper management relies on accurately identifying the underlying condition.

Introduction. The global prevalence of maternal anemia is about 42%, and in sub-Saharan Africa, the prevalence of newborn anemia ranges from 25% to 30%. Anemia in newborn babies may cause complications such as delayed brain maturation and arrested growth. However, there is limited data on the prevalence of newborn anemia and its risk factors in people living in resource-limited settings. Objectives. We determined the prevalence and risk factors for newborn anemia and its correlation with maternal anemia in southwestern Uganda. Methods. This was a cross sectional study of 352 pregnant women presenting to the Mbarara Regional Referral Hospital for delivery. We collected maternal blood in labor and umbilical cord blood from the placental vein. We measured hemoglobin using a point-of-care Hemocue machine. We used summary statistics to characterize the study participants and compared demographic characteristics and outcomes using chi-square, t-test, and Wilcoxon rank sum analyses. We defined newborn anemia as umbilical cord hemoglobin <13 g/dl and measured the relationship between maternal and umbilical cord hemoglobin using linear regression analysis. Results. The prevalence of newborn anemia was 17%. Maternal parity was significantly higher for anemic than nonanemic newborns (3 versus 2, ). The mean age in years (SD) was significantly lower for participants with umbilical cord hemoglobin <13 g/dl than those ≥13 g/dl (26 years [5.6] versus 28 [6.3], ). In multivariable linear regression analysis, a 1-point decrease in maternal hemoglobin was associated with a 0.14-point decrease in umbilical cord hemoglobin (). Each one-unit increase in parity was associated with a 0.25-point decrease in umbilical cord hemoglobin (). Cesarean delivery was associated with a 0.46-point lower umbilical cord hemoglobin level compared with vaginal delivery (). Conclusions. We found a significant association between maternal and newborn hemoglobin, underscoring the importance of preventing and correcting maternal anemia in pregnancy. Furthermore, maternal anemia should be considered a risk factor for neonatal anemia.

SCD is a hereditary disorder caused by genetic mutation in the beta-globin gene, resulting in abnormal hemoglobin, HbS that forms sickle-shaped erythrocytes under hypoxia. Patients with SCD have endocrine disorders and it was described that 7% of these patients have clinical hypothyroidism. Recent studies have shown that mature erythrocytes possess TSH receptors. Thus, we aimed to assess the effects of TSH on SCD erythrocytes. The experiments were conducted using different concentrations of TSH (1, 2, 3, and 5 mIU/L). In HbS polymerization assay, erythrocytes were exposed to TSH in hypoxia to induce polymerization, and measurements were taken for 30 minutes. The deformability assay was made using Sephacryl-S 500 columns to separate deformable from nondeformable cells. Static adhesion test utilized thrombospondin to assess erythrocyte adhesion in the presence of TSH. TSH at all contractions were able to reduce polymerization of HbS and increase deformability. The static adhesion of erythrocytes at the lowest concentrations of 1 and 2 mIU/L were increased, but at higher contractions of 3 and 5 mIU/L, static adhesion was not modulated. The results suggest that TSH has potential involvement in the pathophysiology of sickle cell disease by inhibiting HbS polymerization, positively modulating deformability and impacting static adhesion to thrombospondin.

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.