Diamond-Blackfan anemia is a rare congenital erythroblastopenia typically caused by mutations in ribosomal protein genes. Recently, gain-of-function mutations in TP53 have been identified as a novel cause of Diamond-Blackfan anemia. We report two French patients who both harbored a heterozygous TP53 deletion (NM_000546.5: c.1077delA; p.(Ser362AlafsTer8)). They exhibited normocytic anemia, transient neutropenia at presentation, and distinct neurological impairments. Neither patient responded to a corticosteroid trial. One patient underwent hematopoietic stem cell transplantation from a matched sibling donor and remained transfusion-independent at last follow-up. This study emphasizes the complexity of TP53-associated Diamond-Blackfan anemia syndrome and presents the only patient to date cured by hematopoietic stem cell transplantation.

Jehovah's Witnesses are a religious group whose beliefs regarding blood transfusion may pose important clinical and ethical challenges. As such, more patients refuse whole-blood transfusions. Patients with hip fractures often present with anemia, which increases the likelihood of requiring perioperative blood transfusion and increases morbidity and mortality after surgery. We present here the case report of an 80-year-old female patient, a Jehovah's Witness, with no previous history of thromboembolic events. She was admitted due to a right hip fracture after a fall from a standing height. She revealed pain mobilizing the right lower limb, with external rotation and shortness of the limb. Radiological exams showed a right femoral neck fracture. Lab analysis showed iron deficiency anemia (hemoglobin (Hb) 7.2 g/dL, normocytic and normochromic, serum iron 54.9 µg/dL, ferritin 146 ng/mL, and transferrin saturation (TSAT) 17%; serum folate 5.6 ng/mL and vitamin B12 1229 pg/mL). The patient was treated with intravenous iron supplementation, folic acid, and epoetin beta (30,000 IU twice weekly), to reach a goal of Hb 10 g/dL. One month after the initial trauma, the patient presented with Hb 11 g/dL and hematocrit 33.2% and underwent hip surgery. On post-surgery day 1, Hb decreased to 8.1 g/dL, hematocrit 24.5%, serum iron 68 µg/dL, ferritin 781 ng/mL, and TSAT 27%, with no blood transfusion needed afterward. One more epoetin beta administration was performed in the immediate postoperative period. The patient experienced a positive clinical and analytical evolution with progressive improvement in physical function and Hb levels above 11 g/dL. The treatment strategy effectively enabled hip fracture surgery in this patient, improving the patient's outcomes without any postoperative safety issues.

Mycoplasma pneumoniae (MP) is a common pediatric respiratory pathogen that can rarely present with extrapulmonary manifestations such as hepatic involvement. Recognition of hepatic dysfunction in this context is important for accurate diagnosis and timely therapy. A five-year-old female with asthma presented with fever, cough, fatigue, pruritus, and scleral icterus. Laboratory evaluation revealed leukocytosis, elevated C-reactive protein, mild transaminitis, direct hyperbilirubinemia, elevated PT/PTT, and normocytic anemia. Infectious and hepatic workups were initially unrevealing. The patient showed gradual clinical improvement while receiving empiric ceftriaxone but had persistent leukocytosis. On hospital Day 7, a positive MP IgM prompted azithromycin initiation, which corresponded to the normalization of hepatic indices. This case highlights a rare extrapulmonary manifestation of MP infection with mild hepatic dysfunction and transient hematologic changes, emphasizing the importance of recognizing atypical presentations of MP to facilitate timely diagnosis, avoid unnecessary interventions, and prevent prolonged hospitalization.

Kaposi sarcoma (KS) is an angioproliferative malignancy associated with human herpesvirus 8 and typically presents with cutaneous lesions. Visceral involvement and presentation as secondary hemophagocytic lymphohistiocytosis (HLH) are rare and may obscure the underlying diagnosis. A 45-year-old woman with hepatitis B carrier status and compensated cirrhosis presented with dizziness, fever, rash, fatigue, cytopenias, and hepatosplenomegaly. Laboratory evaluation revealed normocytic anemia, thrombocytopenia, elevated transaminases, and markedly increased inflammatory markers, prompting hospitalization for suspected infection and hematologic disease. Despite broad antimicrobial therapy and extensive investigations, her condition progressed with persistent inflammation, raising the suspicion of secondary HLH. Empirical treatment with etoposide and dexamethasone was initiated. Positron emission tomography demonstrated hypermetabolic bilateral axillary lymphadenopathy, and excisional biopsy of the right axillary lymph node revealed KS. The patient was transferred to oncology care, where therapy was changed to etoposide plus paclitaxel with clinical stabilization. KS presenting as secondary HLH is extremely uncommon and poses significant diagnostic challenges, particularly in the absence of typical cutaneous findings. This case underscores the importance of considering occult malignancy in patients with fever, cytopenias, and hepatosplenomegaly who do not respond to conventional therapy. Timely tissue diagnosis is crucial in patients with suspected HLH when the underlying cause is unclear, as the early identification of malignancy can significantly alter management and improve outcomes.

Background and Clinical Significance: Left atrial myxoma is the most common benign primary cardiac tumor and is associated with embolic and hemodynamic complications. Complete surgical excision is the treatment of choice, while postoperative cardiovascular rehabilitation is essential for functional recovery. Case Presentation: We report the case of a 75-year-old woman with arterial hypertension, dyslipidemia, and chronic venous insufficiency (Clinical-Etiological-Anatomical-Pathophysiological (CEAP) class 2), and chronic hepatitis B virus (HBV) infection who underwent surgical excision of a left atrial myxoma and was subsequently admitted three weeks postoperatively for phase II cardiovascular rehabilitation. The postoperative course was complicated by transient atrial fibrillation, peripheral edema, pleural effusion, and progressive purpuric lesions of the lower limbs. Laboratory and immunological evaluation revealed positive cryoglobulins, markedly elevated rheumatoid factor (1058 UI/mL) and IgM levels (715 mg/dL), reduced complement levels (C3, C4), normocytic normochromic anemia, microscopic hematuria, and elevated ALT (156 U/L), AST (142 U/L), total bilirubin (1.4 mg/dL), and INR (1.6), suggestive of hepatic inflammatory activity. HBV status was scheduled for evaluation through Gastroenterology referral (HBV DNA viral load, serological markers: HBsAg, HBeAg, anti-HBe), as our Cardiology Rehabilitation Clinic lacks the possibility of evaluation. After systematic exclusion of alternative etiologies, secondary cryoglobulinemic vasculitis in the context of chronic HBV infection with biochemical evidence of hepatic activity was considered the most plausible diagnosis. Conclusions: This case highlights the complexity of managing elderly patients after cardiac tumor surgery, particularly in the presence of systemic comorbidities. Early recognition of extracardiac complications and an individualized, multidisciplinary strategy are essential to optimize outcomes.

Pegloticase is an effective therapy for refractory gout but carries a risk of oxidative hemolysis in patients with glucose-6-phosphate dehydrogenase (G6PD) deficiency. Reported cases of hemolytic complications remain limited, particularly those with delayed presentation, where traditional markers such as haptoglobin and bilirubin may have normalized, making diagnosis challenging. We describe a 61-year-old female with known G6PD deficiency who presented with near syncope, nausea, vomiting, and volume depletion four days after receiving her first dose of intravenous pegloticase and recently starting mycophenolate. Initial evaluation revealed severe anemia (hemoglobin 5.1 g/dL) and acute kidney injury (creatinine 9.23 mg/dL). Hemolysis markers were not overtly diagnostic, with normal haptoglobin and bilirubin; however, urinalysis revealed heme-positive urine with no red blood cells, a finding highly suggestive of hemoglobinuria from recent intravascular hemolysis rather than true hematuria. An extensive workup for anemia and acute kidney injury was otherwise unrevealing. Given the temporal association with pegloticase exposure and underlying G6PD deficiency, oxidative hemolysis with concomitant prerenal acute kidney injury was suspected. The patient improved with discontinuation of the offending agents, blood transfusion, and supportive care, with stabilization of hemoglobin and gradual recovery of renal function. This case highlights the importance of recognizing delayed or atypical presentations of drug-induced hemolysis, in which traditional markers may be normal at the time of evaluation. Clinicians should maintain a high index of suspicion for hemolysis after pegloticase administration in G6PD-deficient patients and ensure appropriate screening prior to therapy.

Vitamin B12 deficiency is a common cause of normocytic or megaloblastic anemia. In 2.5% of cases, it can manifest as pseudo-thrombotic microangiopathy (pseudo-TMA), which mimics thrombotic thrombocytopenic purpura (TTP), an emergent hemolytic microangiopathy. This case report discusses a stable-appearing 45-year-old female with progressive fatigue, heavy menstrual bleeding, bleeding gums, and easy bruising. Laboratory testing demonstrated low vitamin B12 (121 pg/mL), pancytopenia, exaggeratedly elevated LDH, undetectable haptoglobin, low reticulocyte production index (RPI), and positive intrinsic factor antibody. She was diagnosed with pseudo-TMA. Unlike TTP, pseudo-TMA patients often appear clinically well and hemodynamically stable without renal or neurologic dysfunction. Other key differentiators of pseudo-TMA include progressive anemia, often with irregular red cell morphology; evidence of pancytopenia, neutropenia, and reticulocytopenia; and LDH levels exceeding 2500 units/L. While clinicians should maintain a low threshold for recognizing TTP as a hematologic emergency, they must also maintain awareness of pseudo-TMA to prevent misdiagnosis and unnecessary plasmapheresis and to optimize treatment.

Footstrike hemolysis is a mechanical form of red blood cell destruction that can occur during high-impact activities yet remains underrecognized in team sports.1 Although well documented in endurance sports, hemolytic responses and hematologic shifts after high-intensity activity have also been observed in elite football players.2 We report a case of a 30-year-old elite soccer player presenting with fatigue and normocytic, normochromic anemia late in the preseason. Common causes of anemia were excluded, and laboratory markers indicated intravascular hemolysis. The temporal relationship with training intensity and normalization of hematologic markers after the use of soft insoles-without a reduction in training load-supports a diagnosis of mechanical hemolysis. This case highlights footstrike hemolysis as a potential cause of unexplained anemia in athletes. Increased awareness may support timely recognition and individualized management, though further research is needed to clarify incidence, impact on performance, and treatment outcomes.

Riboflavin (vitamin B2) is a water-soluble, heat-stable vitamin essential for cellular energy metabolism, acting as a precursor to the coenzymes flavin mononucleotide (FMN) and flavin adenine dinucleotide (FAD). These cofactors are required by flavoproteins such as succinate dehydrogenase (Complex II), which participate in both the citric acid cycle and the mitochondrial electron transport chain, enabling adenosine triphosphate (ATP) production, maintaining redox balance, and supporting antioxidant defenses. Beyond energy metabolism, riboflavin contributes to immune function and to maintaining the health of skin, hair, and mucous membranes. Deficiency disrupts these pathways, leading to fatigue, normocytic anemia, neuromuscular symptoms, and secondary impairments in iron and other B-vitamin metabolism, including the activation of niacin (vitamin B3) and pyridoxine (vitamin B6). Because humans cannot synthesize riboflavin, adequate dietary intake is necessary, and absorption depends on normal gastrointestinal function. Excess riboflavin is excreted in urine, producing the characteristic yellow color that indicates adequate intake. Clinical deficiency is characterized by mucocutaneous manifestations (cheilosis, angular stomatitis, glossitis, dermatitis) and anemia; in severe or prolonged cases, it may lead to neurologic or ocular metabolic abnormalities, reduced physical performance, and developmental problems. Emerging evidence also links riboflavin deficiency to psoriasis, with decreased intake associated with a higher risk and upregulated riboflavin metabolism observed in psoriatic skin, suggesting a protective role for adequate riboflavin status, particularly in individuals older than 40 years. This article reviews the etiology, epidemiology, pathophysiology, clinical presentation, evaluation, management, complications, and prognosis of riboflavin deficiency. The article also highlights the roles of patient education and interprofessional healthcare team collaboration in optimizing patient outcomes.