May AlMoshary

Hemophilia is an inherited bleeding disorder associated with substantial physical, emotional, and social challenges. This study evaluated the association of disease severity, bleeding frequency, and laboratory parameters with quality of life (QoL) among patients with hemophilia. A cross-sectional study was conducted among patients with hemophilia attending Cluster 2 Hospitals, Jeddah, Saudi Arabia. Clinical, haematological, and biochemical data were collected, and QoL was assessed using the 36-Item Short Form Health Survey (SF-36). Pearson's correlation, one-way analysis of variance, and multivariable logistic regression were performed. Patients with severe hemophilia demonstrated significantly lower physical functioning (35.58 vs. 55.92; P = 0.039) and emotional well being scores (48.59 vs. 61.32; P = 0.031) than those with mild disease. Recurrent joint bleeding (≥2 episodes within 6 months) independently predicted impaired QoL (AOR = 5.2; P < 0.001), while severe disease was also a significant predictor (AOR = 4.1; P = 0.001). Age was negatively correlated with QoL ( r = -0.48; P < 0.001). Serum ferritin showed a weak negative association ( r = -0.27; P = 0.003), whereas INR correlated positively with QoL ( r = 0.44; P < 0.001). Disease severity, recurrent bleeding, and advancing age are major determinants of reduced QoL in hemophilia. These findings support individualized prophylactic and multidisciplinary management strategies to improve patient outcomes.

Background/Objectives: Iron deficiency anemia (IDA) remains the most prevalent nutritional deficiency worldwide and a leading cause of years lived with disability, particularly in low-income countries. In Egypt, the burden is substantial and compounded by regional socioeconomic, nutritional, and parasitic factors. Despite this, the predictors of diagnostic delay within the Egyptian healthcare system remain poorly characterized. This study aimed to quantify the extent of diagnostic delay among Egyptian patients with IDA and to identify the sociodemographic and clinical risk factors independently associated with prolonged time to diagnostic confirmation. Methods: A single-center retrospective cohort study was conducted at Al-Minia University Hospital, Egypt, between March and April 2026, enrolling 350 adults with confirmed IDA diagnosed between 2015 and 2025. “Diagnostic delay” was defined as the interval in days from the index date (the first documented abnormal complete blood count) to laboratory confirmation of iron deficiency by serum ferritin and/or transferrin saturation. Secondary outcomes included patient delay, system/testing delay, and etiology work-up delay. Time-to-event analysis was performed using Kaplan–Meier curves and Cox proportional hazards regression. All analyses were conducted in R version 4.4.0. Results: The cohort comprised 213 females (60.9%) and 137 males (39.1%), with a median age of 39 and 36 years, respectively. The median primary diagnostic delay was 76.0 days (IQR: 38.0, 182.8), with patient delay accounting for a median of 26.5 days and system/testing delay for 21.0 days. Overall, 155 patients (44.3%) experienced a diagnostic delay of more than 90 days. In the multivariable Cox model, urban residence (aHR = 0.69, 95% CI [0.53, 0.99], p = 0.045) was independently associated with a slower rate of diagnostic confirmation. Conclusions: Diagnostic delay in IDA is substantial in Egypt, driven by both patient-level symptom normalization and counterintuitive systemic bottlenecks. Urban residence was independently associated with prolonged time to diagnostic confirmation; ordering of iron studies at the first visit was associated with delay in bivariate analysis only and was not an independent predictor after multivariable adjustment. Targeted public health education, restructured primary care pathways, and improved laboratory turnaround times are essential to reduce this burden.

Background & objectives: Cutaneous leishmaniasis (CL) is reported as the most neglected tropical disease. The polarization of macrophages such as M1 or M2 phenotypes significantly affects the development of leishmaniasis. However, the accurate immune responses behind the macrophage polarization process in CL are poorly understood. This study was designed to determine the status of macrophage polarization in CL. Methods: This case-control study was conducted at Princess Nourah bint Abdulrahman University, Saudi Arabia, from January to December 2023. Patients aged 18 to 65 years diagnosed with cutaneous leishmaniasis were included. Patients with other immunocompromising conditions (e.g., HIV infection), those receiving immunosuppressive therapy, or those with systemic leishmaniasis were excluded. Results: In a sample of 70 CL patients, macrophage polarization profiles were assessed in 43 (61.42%) patients in the case group and 27 (38.57%) in the control group. The experimental group had a higher prevalence of mild iNOS expression (24/43), while the control group had more iNOS-negative subjects (11/27). Arg-1 expression analysis showed a higher adverse and mild expression incidence in both groups, with 26/43 and 16/43 cases, respectively. M1 macrophage polarization was significantly higher in patients with lesions <4 (65.11%) compared to M2 polarization (11.62%). Lesions lasting <12 months also showed greater M1 polarization (51.61%) compared to M2 (30.23%), with statistical significance (p<0.001). Additionally, ulcerated lesions were more common in the M1 group (37.20%) than in the M2 group (16.27%) (p<0.001). Interpretation & conclusion: The findings reported that M1 macrophages are more prevalent in CL early and acute stages, while M2 macrophages may be more active in the long-term or healing phases. There were also notable changes in macrophage polarization among the experimental and control groups.

Hemorrhagic cholecystitis is a rare and potentially life-threatening condition that requires immediate medical attention. If the gallbladder perforates, it can lead to even more severe complications. We present the case of a 27-year-old man with Glanzmann’s thrombasthenia, a rare platelets disorder, who visited the emergency department twice before being diagnosed with this condition. Initially, he complained of ear pain, and later, chest pain. Despite a normal ECG and cardiac markers, he was discharged with non-steroidal anti-inflammatory drugs (NSAIDs) for musculoskeletal pain. However, when he returned with abdominal pain, nausea, and vomiting, an ultrasound revealed signs of cholecystitis. An emergency laparoscopic cholecystectomy was performed, which revealed hemorrhagic cholecystitis.

Background: In the present review, we aimed to synthesize evidence from studies on the safety and effectiveness of prophylactic blood transfusion in pregnant women with sickle cell disease. Material and methods: To gather relevant information, we conducted systematic electronic searches of databases such as SCOPUS, Medline via PubMed, Web of Science, and Cochrane Central Register of Controlled Trials. We included both retrospective and prospective studies that examined the impact of prophylactic blood transfusions during pregnancy. The collected data were analyzed using Review Manager, version 5.3. Results: The review included 15 cohort studies. The overall findings indicated a preference for the prophylactic blood transfusion group over the control group across several key parameters. Specifically, the prophylactic group demonstrated lower rates of maternal mortality (odds ratio [OR] = 0.33; 95% confidence interval [CI] = 0.10–1.13; P = .08), reduced incidence of vaso-occlusive painful events (OR = 0.31; 95% CI = 0.14–0.73; P = .007), fewer pulmonary complications (OR = 0.21; 95% CI = 0.08–0.53; P = .001), decreased perinatal mortality (OR = 0.35; 95% CI = 0.17–0.75; P = .03), and lower likelihood of preterm birth (OR = 0.67; 95% CI = 0.47–0.96; P = .02). Notably, statistically significant heterogeneities were observed in the pooled effect estimates. Conclusion: The present meta-analysis indicated that prophylactic blood transfusion in pregnant women with sickle cell disease may improve maternal and fetal outcomes. However, substantial variations in the methodology and transfusion protocols among the included studies limited the credibility of the current evidence supporting the routine clinical use of prophylactic transfusion for SCD during pregnancy.

Pure erythroid leukemia (PEL) is a rare form of acute myeloid leukemia characterized by the neoplastic proliferation of erythroblasts. PEL is associated with inferior survival outcomes, particularly among patients harboring complex karyotype abnormalities. In this case, we present a 21-year-old Sudanese man who presented to our ER with a two-week history of fever, shortness of breath, fatigue, and exercise intolerance. He had no significant personal medical history or family history of malignancy. A bone marrow biopsy revealed hypercellularity and infiltration by cells with an immature appearance. A flow cytometry (FC) analysis of the bone marrow aspirate revealed that approximately 21% of the total nucleated cells were negative for CD45 and positive for CD71, glycophorin A, and CD36 but negative for myeloperoxidase (MPO), CD33, CD13, CD61, CD41, and other lymphoid and myeloid markers. Consistent with the microscopic analysis, 80% of the cells. Our findings suggested a differential diagnosis that included erythroid leukemia and myelodysplastic syndrome (MDS). The morphological, FC, immunohistochemistry, and cytogenetic findings strongly supported a diagnosis of PEL.

The aim of our study was to correlate liver function tests with serum ferritin levels in multi-transfused thalassemia patients. This was a descriptive cross-sectional study conducted in the department of hematology, Khyber Medical University, from January 2018 to December 2018. Thalassemia patients of either sex dependent on transfusion ≥ 1 year and having a confirmatory report of the disease were included in our study. The nonprobability convenience sampling technique was used. The Pearson correlation coefficient was applied to observe the correlation between serum ferritin level and liver function tests. A p-value of ≤0.05 was considered statistically significant. SPSS version 23 (SPSS Inc., Chicago, Illinois) was used for data analysis. A total of 138 subjects of age range 2-23 years, with a mean age of 12.08 ± 6.02 years, were included in our study. The mean serum ferritin of patients in our study was 3278.64 ng/ml with the lowest of 285.2 ng/mL and the highest of 10940.2 ng/ml. With the increase in serum ferritin levels, a rapid increase in alanine aminotransferase (ALT), aspartate aminotransferase (AST), and alkaline phosphatase (ALP) levels was seen. When serum ferritin levels were correlated with total bilirubin level, the bilirubin level remains static with a further increase in serum ferritin levels. It was deduced that iron deposition is the ultimate reason for increased liver enzymes. There was a positive correlation between serum ferritin and ALT, AST, and ALP while a weak connection was found between serum ferritin and bilirubin levels.

Background: Childhood Acute Leukemia (AL) is characterized by recurrent genetic aberrations in 60% of AML cases and 90% of ALL cases. Insufficient data exists of rare cytogenetic abnormalities in AL. Therefore, we tested rare cytogenetic abnormalities occurring in childhood AL and its effect on clinical prognosis in patients diagnosed at our institution from 2010 to 2017. Results: Among 150 cases of AL, we detected 9 cases with rare chromosomal abnormalities. We found two hypodiploid (2n-) cases: 2n-,t (5;14)(q31;q32) and t (3;11;19)(q21;q23;q13.1) in ALL patients. AML patients showed t (7;14)(q22;q32), t (11;17)(p15;q21), t (11;20) (p15;q11), t (12;17)(q15;q23) and t (11;20)(p15;q11). Both t (1;15)(q10;q10) and t (17;19)(q21;p13.3) occurred in a case with biphenotypic AL. Complete remission (CR) status was attained in 3 patients and 6 patients never attained CR or relapsed/demised. Conclusion: The study highlighted that rare cytogenetic abnormalities are associated with a poor prognosis. This finding is not well reported in the literature suggesting that ongoing cytogenetic studies for rare abnormalities associated with pediatric leukaemia are warranted.