Sanjad-Sakati syndrome (SSS) is a rare autosomal recessive disorder characterized by hypoparathyroidism, growth retardation, and dysmorphic features. However, the hematological profile of affected patients remains poorly characterized. This study aimed to investigate complete blood count (CBC) parameters in patients with SSS compared to healthy controls. This cross-sectional observational study included 19 patients with Sanjad-Sakati syndrome and 31 age- and sex-matched healthy controls. Blood samples were collected for CBC analysis measuring 14 hematological parameters. Statistical comparisons were performed using independent t-tests or Mann-Whitney U tests with Benjamini-Hochberg correction for multiple comparisons. Effect sizes (Cohen's d or r) were calculated to quantify differences. Patients with SSS showed significantly lower red blood cell count, hemoglobin (10.16 ± 1.86 vs. 13.87 ± 1.13 g/dL), hematocrit (32.25 ± 5.15 vs. 38.75 ± 2.75%), MCH, and MCHC compared to controls (all p < 0.01). Conversely, white blood cell count (13.37 ± 5.74 vs. 6.08 ± 1.61 × 109/L), RDW-CV (18.69 ± 4.05 vs. 13.15 ± 0.77%), eosinophils, basophils, and monocytes were significantly elevated in patients (p < 0.001). The largest effect sizes were observed for hemoglobin (d =  - 2.57), RDW (d = 2.17), and WBC (d = 1.95). MCV, platelet count, neutrophils, and lymphocytes showed no significant differences.Conclusion: Sanjad-Sakati syndrome is associated with significant hematological alterations including microcytic anemia and leukocyte imbalances. Routine CBC monitoring is recommended for clinical management of affected patients.

Background: Smooth muscle tumors of uncertain malignant potential (STUMPs) are rare uterine neoplasms occupying the diagnostic continuum between benign leiomyoma and overtly malignant leiomyosarcoma. Their preoperative identification remains beyond the capability of current imaging modalities, and the diagnosis is almost invariably established through postoperative histopathological examination. The natural history of STUMP is highly variable, with recurrence rates ranging from approximately 7-27% and a documented potential for malignant transformation, underscoring the need for accurate pathological classification and long-term surveillance. Case Presentation: A 40-year-old woman with a history of hypertension presented with a 5-month history of progressive lower abdominal distension, urinary frequency, and menorrhagia. Transabdominal ultrasonography identified a large uterine fundal mass measuring approximately 10.89 × 8.96 cm. Preoperative laboratory findings demonstrated microcytic anemia. She underwent laparo-endoscopic single-site supracervical hysterectomy with bilateral salpingectomy. Histopathological examination revealed spindle cells with bland to mildly atypical nuclei, a mitotic count of <10/10 high-power fields, and focal necrosis, consistent with a diagnosis of STUMP. The patient remained free of recurrence over a 2-year follow-up period. Conclusions: This case illustrates the diagnostic challenge posed by STUMP in the preoperative setting and highlights the critical importance of thorough histopathological evaluation of all uterine smooth muscle tumor specimens. Minimally invasive hysterectomy with in-bag morcellation represents a feasible surgical approach, and long-term oncological surveillance is warranted given the risk of late recurrence and malignant transformation. Clinicians should maintain a heightened index of suspicion for borderline smooth muscle tumors when evaluating large or symptomatic uterine masses in premenopausal women.

Microcytic hypochromic anemia is commonly presumed to represent iron deficiency anemia (IDA) at initial presentation. However, failure to respond to iron supplementation and iron indices inconsistent with IDA should prompt early diagnostic reassessment. We report a 67-year-old woman with severe microcytic hypochromic anemia after ineffective iron therapy. Iron studies indicated iron loading with impaired iron utilization rather than iron deficiency. Bone marrow Perls staining revealed ring sideroblasts in 14% of erythroblasts. Further stratified evaluation supported an acquired ring sideroblast phenotype, but the etiology could not be conclusively established. The patient received multifactorial supportive management, including discontinuation of unnecessary iron supplementation, early transfusion support, erythropoietin during hospitalization, pyridoxine supplementation, infection treatment, and optimization of comorbidities. Hemoglobin gradually improved and remained stable during follow-up without further transfusion. This case underscores the importance of early reassessment in older patients with iron-refractory microcytic anemia and discordant iron indices. Bone marrow Perls staining is critical for identifying ring sideroblasts. Assessment including SF3B1 testing may aid etiologic stratification, but SF3B1 negativity alone is insufficient to exclude clonal myeloid disease.

Primary Hypertrophic Osteoarthropathy (PHO) demonstrates variable inherited penetrance, and clinical expression. The identification of SLCO2A1 (solute carrier organic anion transporter family member 2A1), HPGD(Hydroxyl prostaglandin dehydrogenase) has provided new insights into its pathophysiology. These discoveries have facilitated diagnosis, particularly in paediatric population. This study emphasises genetic level diagnostic approach alongside therapeutic interventions. A prospective, multicentric study was conducted at two tertiary care centre. Eight PHO cases were identified after excluding all other causes of transfusion-dependent microcytic hypochromic anaemia. Genetic mutation in the genes SLCO2A1, HPGD were studied. All patients received treatment with etoricoxib and steroid therapy, were followed up for one year. In our cohort, all were males. Six patients had classical phenotypic expression. Three had prominent gastrointestinal manifestations. Two paediatric patients had family history of transfusion-dependent anaemia. All had homozygous recessive SLCO2A1 mutation. Five patients experienced transient improvement in form of transfusion-free period, decrease in spleen size, and reduced arthralgia, fatigue. Three patients didn't demonstrate any major therapeutic benefit. Clinicians should maintain high index of suspicion for PHO in young patients presenting with transfusion-dependent microcytic anaemia, particularly after excluding all inherited, acquired causes. Although etoricoxib, steroids show therapeutic promise. Further extensive research is necessary to establish their efficacy, safety.

Rasmussen's aneurysm is a rare but potentially fatal vascular complication of pulmonary tuberculosis and an uncommon cause of massive hemoptysis. A 27-year-old female with no significant past medical history was admitted for a seven-month history of productive cough, intermittent mild hemoptysis, fever, night sweats, and marked asthenia. Chest computed tomography revealed multiple bilateral cavitary lesions and a focal dilatation of a segmental pulmonary artery within a left basal alveolar consolidation, consistent with Rasmussen's aneurysm. Sputum Xpert Mycobacterium tuberculosis/rifampicin (MTB/RIF) assay (Cepheid, Sunnyvale, CA) confirmed drug-susceptible pulmonary tuberculosis. Laboratory testing showed microcytic hypochromic anemia with a hemoglobin level of 7.6 g/dL. The patient received intravenous hemostatic therapy and urgent transfusion of two units of packed red blood cells. Endovascular embolization was planned within 24 hours; however, she died shortly afterward from sudden massive hemoptysis. This case highlights that Rasmussen's aneurysm may complicate active pulmonary tuberculosis at initial presentation, particularly in the setting of delayed diagnosis, and underscores the need for rapid vascular imaging and urgent multidisciplinary management in any patient with cavitary tuberculosis and hemoptysis.

ObjectiveThis study aimed to assess the prevalence of anemia in Hungary between 2019 and 2022 as detailed data in this regard was not available.MethodsThis retrospective, observational, cross-sectional study enrolled 85628 patients with a median age of 63 (44-76 interquartile range) years admitted to the Emergency Department of the University of Pécs, Hungary, between January, 2019, and December, 2022.ResultsThe overall prevalence of anemia was 22.68%. The prevalence of anemia did not change significantly during the study period (2019: 22.30%; 2020: 22.88%; 2021: 22.55%; 2022: 23.00%). However, the prevalence of severe anemia (Hgb<8g/dL) was higher compared to 2019, in each year (2019:2.00%; 2020:2.52%; 2021:2.60%; 2022:2.47%, p<0.001). The increase was observed in each analyzed year among the elderly male patients and in 2021 and 2022 among the elderly female patients. The rising number of patients with COVID-19 diagnosis presenting severe anemia may have contributed to this change. Among all anemic patients, the overall prevalence of microcytic and macrocytic anemia accounted for one-third, while hypochromic and hyperchromic anemia for half of the cases. Hypochromic anemia prevalence decreased and normochromic anemia prevalence increased significantly in each year. The prevalence of microcytic anemia decreased in the year 2020 compared to 2019, the changes being observed among the female patients only.ConclusionsOver the study period, anemia affected approximately one-quarter of the patients each year, while the proportion of severe anemia increased, especially in the elderly.

Mucinous cystic neoplasms of the liver (MCN-L) are rare cystic tumors defined by the presence of ovarian-type subepithelial stroma beneath mucin-secreting epithelium and carry a risk of malignant transformation, necessitating complete surgical excision. Giant MCN-L lesions are exceptionally uncommon, and data regarding minimally invasive management of such large tumors remain limited. A 44-year-old woman (American Society of Anesthesiologists I) presented with a six-month history of progressive right-sided abdominal fullness. Contrast-enhanced computed tomography revealed a large 27 × 18 × 19 cm thin-walled, unilocular cystic lesion arising from the posterior segments of the right hepatic lobe, extending into the pelvis. Laboratory investigations demonstrated microcytic hypochromic anemia (hemoglobin 9.6 g/dL), with preserved liver and renal function. Serum tumor markers showed carcinoembryonic antigen of 0.70 ng/mL, carbohydrate antigen 19-9 of 11.33 U/mL, cancer antigen-125 of 13.3 U/mL, and alpha-fetoprotein of 9.27 ng/mL. Hydatid serology was negative. The patient underwent laparoscopic right posterior sectionectomy (segments VI and VII) with cholecystectomy. Approximately 4.5 L of clear fluid was aspirated in a controlled manner to decompress the cyst and improve operative exposure. Complete excision of the cyst-replaced posterior sector was achieved. The operative time was approximately 210 minutes with an estimated blood loss of 150 mL. Histopathological examination confirmed mucinous cystic neoplasm with mucin-secreting epithelium (cytokeratin 7 positive, cytokeratin 20 negative) and characteristic ovarian-type stroma expressing estrogen and progesterone receptors, without dysplasia or malignancy. The postoperative course was uneventful, and the patient was discharged in stable condition. At one-year follow-up, there was no evidence of recurrence. This case highlights that laparoscopic right posterior sectionectomy is feasible for giant MCN-L, even when the lesion exceeds 25 cm, provided careful decompression and appropriate surgical expertise are available. At 27 cm, this represents one of the largest MCN-L successfully managed using a purely laparoscopic approach. Complete excision remains essential due to the malignant potential of these lesions.

Thalassemia is a prevalent genetic disorder in Southeast Asia. The Hemoglobin Minneapolis-Laos variant is very rarely reported with only two previously published reports that profile a total of three patients. Here, we present the first reported case of compound heterozygous β zero (β[0])-thalassemia and Hemoglobin Minneapolis-Laos in a 46-year-old Thai female. She presented at Siriraj Hospital (Bangkok, Thailand) with chronic microcytic anemia, which is a more severe phenotype than would be expected from either trait alone. Initial hemoglobin electrophoresis via high-performance liquid chromatography and capillary electrophoresis revealed elevated hemoglobin A2 (5.5% and 6.3%, respectively), which is a finding consistent with a β-thalassemia trait, but this finding failed to explain the full extent of her anemia. Next-generation sequencing was then performed to investigate for a congenital red blood cell disorder. The results identified the following two mutations in the β-globin gene (HBB): heterozygous β[0]-thalassemia codon 41/42 (-TTCT), and HBB c.356T >A, the latter of which is consistent with hemoglobin Minneapolis-Laos. This case highlights the importance of advanced genetic testing to diagnose rare hemoglobin variants that cannot be identified by conventional investigation and further contributes to our understanding of this rare combination's clinical phenotype.

Severe microcytic anemia may serve as a potentially reversible precipitating factor in heart failure with reduced ejection fraction (HFrEF). This case highlights the diagnostic complexity and hemodynamic consequences of severe, microcytic anemia with undetermined etiology in a patient presenting with newly diagnosed heart failure. A 60-year-old Hispanic woman presented with new-onset acute dyspnea, chest pain, and bilateral edema. Investigations revealed severe microcytic anemia (hemoglobin 4.5 g/dL, MCV 60.8 fL) and an ejection fraction of 33%. Iron studies (iron 40 μg/dL, ferritin 14 ng/mL, total iron binding capacity 541 μg/dL, transferrin saturation 7%) were consistent with presumed iron deficiency anemia. Imaging and fecal occult blood testing did not identify a source of bleeding or malignancy, and endoscopic imaging was not completed due to financial constraints. The patient received packed red blood cells and intravenous iron to stabilize the acute condition. This case highlights the importance of considering severe anemia as a possible precipitating factor in new-onset heart failure, as well as the need for comprehensive evaluation to identify potentially reversible triggers.

Ankylosing spondylitis (AS) is a chronic immune-mediated inflammatory arthropathy primarily affecting the axial skeleton but may involve peripheral joints, particularly the hips. Avascular necrosis (AVN) of the femoral head represents a severe, underrecognized complication whose pathogenesis in AS is multifactorial-encompassing disease-intrinsic inflammatory vasculopathy, iatrogenic glucocorticoid exposure, and, potentially, a prothrombotic state. We report the case of a 28-year-old HLA-B27-positive male with a decade-long history of AS who presented with bilateral AVN of the femoral heads superimposed on secondary hip osteoarthritis, compounded by severe microcytic anemia (hemoglobin 6.5 g/dL) and a recent COVID-19 infection. The patient was initiated on infliximab (TNF inhibitor) for disease control and underwent staged bilateral total hip arthroplasty (left hip: March 2023; right hip: October 2024), achieving marked functional recovery. This case underscores the importance of prospective hip surveillance in AS, delineates the mechanistic nexus between systemic inflammation, corticosteroid use, and AVN, and highlights the perioperative considerations unique to biologic-treated AS patients. A multidisciplinary rheumatology-orthopedic approach is essential to optimize outcomes in this high-complexity population.