UNASSIGNED: When a person has both HS and beta-thalassemia, their clinical symptoms tend to be less severe. This is because these two conditions have contrasting features. If the clinical symptoms and laboratory results cannot be solely attributed to hemolytic anemia, it is important to consider the possibility of another form of hemolytic anemia coexisting.
UNASSIGNED: We present a 26-year-old woman who has been experiencing abdominal pain, jaundice, and anemia for the past 15 years. Initially, she was diagnosed with gallstones and splenomegaly, but after a thorough hematology examination conducted by expert colleagues, it was discovered that she had both beta-thalassemia and hereditary spherocytosis. The osmotic fragility test confirmed this diagnosis. The patient was advised to undergo both splenectomy and cholecystectomy procedures. It is worth noting that the co-occurrence of these two conditions is rare.

Congenital dyserythropoietic anemias (CDAs) are rare hereditary disorders, of which type II CDA is the most common. Mutations in the SEC23B gene located on chromosome 20 result in this autosomal recessive disorder. In this case report, we present a case of CDA II with unique biopsy findings being detected via genetic testing. A female aged 30 years presented with major complaints of pallor weakness and easy fatiguability since childhood. The patient gave a history of 25 units of blood transfusion, the majority of which were transfused during pregnancy, followed by regular transfusions thereafter. On examination, all her vitals were in the normal range. Pallor, frontal bossing, and malocclusion of teeth were noted. Her laboratory workup showed the following: hemoglobin (Hb): 3.7 g/dl; mean corpuscular volume: 83 fl; mean corpuscular Hb: 29 g/dl; mean corpuscular Hb concentration: 34.9 g/dl; red cell distribution width: 30.4%; reticulocyte count (RC): 6.2%; corrected RC: 1.3%; lactate dehydrogenase: 441 IU/L; direct Coombs test/indirect Coombs test: negative; serum iron: 242 microgram/dl; transferrin saturation: 96.08%; ferritin: 1,880 ng/ml; and normal high-performance liquid chromatography and eosin-5\'-maleimide binding test. The peripheral blood film showed normocytic normochromic anemia with anisopoikilocytosis in the form of a few spherocytes. No immature cells were seen. After obtaining the patient\'s consent, we performed a hereditary hemolytic anemia gene analysis test, which showed homozygous missense variation in exon 12 of the SEC23B gene. The bone marrow examination showed hyperplasia in the erythroid series with dyserythropoiesis, and surprisingly, myelofibrosis grade I-II (WHO 2017) was also observed on biopsy. Patients with CDA type II generally present with variable degrees of anemia along with pallor, icterus, splenomegaly, gallstones, and iron overload. In our case, the diagnosis of CDA type II was made at an adult age. Also, evidence of myelofibrosis was noted in our case, making it worth reporting. The use of a hereditary hemolytic anemia gene analysis panel test came as a rescue for its exact diagnosis. This case report emphasizes the role of molecular genetic testing for early and accurate diagnosis, which, in turn, could help in appropriate treatment planning and proper genetic counseling. The prevalence of CDA type II is still vaguely known; hence, extensive workup of persistent anemias and proper follow-up would be beneficial.

BACKGROUND: Primary myelofibrosis is a subtype of myeloproliferative neoplasm that leads to bone marrow fibrosis. Historically, the only curative option for primary myelofibrosis was allogeneic hematopoietic stem cell transplant. Ruxolitinib, a Janus kinase inhibitor, is now used for the treatment of primary myelofibrosis and polycythemia vera. It effectively improves symptoms related to splenomegaly and anemia. However, its association with the development of opportunistic infections has been observed in clinical studies and practical application.
METHODS: A 64-year-old female with primary myelofibrosis and chronic hepatitis B infection who received ruxolitinib treatment. She was admitted for spiking fever and altered consciousness.
METHODS: Tuberculosis meningitis was suspected but cerebrospinal fluid can\'t identify any pathogens. An abdominal computed tomography scan revealed a left psoas abscess and an enlarged spleen. A computed tomography-guided pus drainage procedure was performed, showing a strong positive acid-fast stain and a positive Mycobacterium tuberculosis polymerase chain reaction result.
METHODS: antituberculosis medications were administered. The patient developed a psoas muscle abscess caused by tuberculosis and multiple dermatomes of herpes zoster during antituberculosis treatment.
RESULTS: The patient was ultimately discharged after 6 weeks of treatment without apparent neurological sequelae.
CONCLUSIONS: This case underscores the importance of clinicians evaluating latent infections and ensuring full vaccination prior to initiating ruxolitinib-related treatment for primary myelofibrosis.

UNASSIGNED: Primary splenic lymphoma is a rare lymphoproliferative disorder that involves the spleen, exhibits diverse clinical presentations, and lacks a clear consensus in terms of management strategies.
UNASSIGNED: We present the case of a 52-year-old patient with a complex medical history marked by multiple chronic medical conditions. The patient was diagnosed with primary splenic lymphoma, specifically the diffuse large B-cell subtype. Treatment for our patient involved a shortened course of chemotherapy (4 cycles of rituximab, cyclophosphamide, doxorubicin, vincristine, and prednisone [R-CHOP] followed by two doses of rituximab) due to issues related to compliance and treatment-related complications. This was followed by consolidative radiotherapy without resorting to splenectomy.
UNASSIGNED: Remarkably, despite using a shortened course of R-CHOP, the patient achieved complete resolution, and a positron emission tomography scan conducted at the end of the 6-month posttreatment period confirmed sustained complete remission.

Isolated splenic peliosis is an extremely rare condition characterized by the presence of multiple blood-filled cavities, occasionally resulting in non-traumatic splenic rupture with fatal bleeding. In our case, a 64-year-old man was brought by ambulance due to weakness and abdominal pain without nausea or febrility. On clinical examination, the patient was sensitive to palpation with significant tenderness over the abdomen but no associated features of peritonitis. He collapsed during the imaging examination and became unconscious and asystolic. Cardiopulmonary resuscitation was not successful. The patient died approximately within 2 hours of admission to the hospital. Postmortal examination showed 2800 ml of intraperitoneal blood with clots and a laceration of the lower pole of the spleen. Macroscopic examination of the spleen revealed huge nodular splenomegaly, measuring 21 cm x 19 cm x 5 cm, weighing 755 g. On the cut surfaces, multiple randomly distributed blood-filled cavities ranging from 0,5 to 2 cm in diameter were seen. At microscopic examination, the specimens showed multiple irregular haemorrhagic cyst-like lesions that were not lined by any epithelium or sinusoidal endothelium, consistent with the diagnosis of peliosis lienis. Although the condition is often clinically silent, the forensic pathological significance arises from the differential diagnosis of resultant intraperitoneal haemorrhage and sudden death, mimicking a violent death.

Primary myelofibrosis (PMF) is a myeloproliferative neoplasm with splenomegaly as the major clinical manifestation, which is commonly considered to be linked to splenic extramedullary hematopoiesis. Alteration of CXCL12/CXCR4 pathway can lead to the migration of hematopoietic stem cells and hematopoietic progenitor cells from bone marrow to spleen which results in splenic extramedullary hematopoiesis. In addition, low GATA1 expression and the abnormal secretion of cytokines were found to be significantly associated with splenomegaly. With the application of JAK1/2 inhibitors in clinical, the symptoms of splenomegaly have been significantly improved in PMF patients. This article will review the pathogenesis and targeted treatment progress of splenomegaly in PMF.
UNASSIGNED: 原发性骨髓纤维化脾肿大发生机制及靶向治疗进展.
UNASSIGNED: 原发性骨髓纤维化是一种骨髓增殖性肿瘤，脾肿大是其突出的临床特征，通常被认为与脾脏的髓外造血有关。CXCL12/CXCR4轴的异常可以导致造血干细胞和造血祖细胞从骨髓迁移到脾脏从而引起脾内髓外造血。此外，低GATA1表达和细胞因子异常分泌被发现与脾肿大显著相关。随着JAK1/2抑制剂在临床中的使用，原发性骨髓纤维化患者的脾大症状得到了显著改善。本文将对原发性骨髓纤维化脾肿大的发生机制及靶向治疗研究进展作一综述。.

Hepatosplenic schistosomiasis is a complex clinical condition caused by the complications of chronic infection with Schistosoma species that cause intestinal schistosomiasis. Hepatosplenic schistosomiasis derives from the fibrotic reaction stimulated around parasite eggs that are transported by the mesenteric circulation to the liver, causing periportal fibrosis. Portal hypertension and variceal gastrointestinal bleeding are major complications of hepatosplenic schistosomiasis. The clinical management of hepatosplenic schistosomiasis is not standardised and a parameter that could guide clinical decision making has not yet been identified. Transjugular intrahepatic portosystemic shunt (TIPS) appears promising for use in hepatosplenic schistosomiasis but is still reported in very few patients. In this Grand Round, we report one patient with hepatosplenic schistosomiasis treated with TIPS, which resulted in regression of oesophageal varices but had to be followed by splenectomy due to persisting severe splenomegaly and thrombocytopenia. We summarise the main challenges in the clinical management of this patient with hepatosplenic schistosomiasis, highlight results of a scoping review of the literature, and evaluate the use of of TIPS in patients with early hepatosplenic schistosomiasis, to improve the prognosis.

Inherited Metabolic Diseases (IMD) encompass a diverse group of rare genetic conditions that, despite their individual rarity, collectively affect a substantial proportion, estimated at as much as 1 in 784 live births. Among their wide-ranging clinical manifestations, cytopenia stands out as a prominent feature. Consequently, IMD should be considered a potential diagnosis when evaluating patients presenting with cytopenia. However, it is essential to note that the existing scientific literature pertaining to the link between IMD and cytopenia is limited, primarily comprising case reports and case series. This paucity of data may contribute to the inadequate recognition of the association between IMD and cytopenia, potentially leading to underdiagnosis. In this review, we synthesize our findings from a literature analysis along with our clinical expertise to offer a comprehensive insight into the clinical presentation of IMD cases associated with cytopenia. Furthermore, we introduce a structured diagnostic approach underpinned by decision-making algorithms, with the aim of enhancing the early identification and management of IMD-related cytopenia.

Inflammatory pseudo tumor (IP) is an infrequent process with benign evolution in most cases whose etiology and pathogenesis are unknown. It usually affects young men and children, in whom the macroscopic lesion can mimic a malignant process, which is ruled out after biopsy. Therefore, the diagnosis of certainty is histological and treatment consists of corticosteroids, leaving resection for cases in which biopsy is not possible or in which it produces local complications. We present a case of an inflammatory pseudo tumor with special corticodependence that began as a long-term periodic fever and splenic focal lesion that required splenectomy for its diagnosis and that, after decreasing the corticosteroid regimen, presented recurrences at the cerebellar and systemic level requiring the association of various immunosuppressants and rituximab to achieve remission. As a result of this case, we have performed an analysis of all the pseudo tumors diagnosed in adults in the hospitals of the province of Malaga, and it has been compared with that described in the bibliography.

Gray platelet syndrome (GPS) is a rare hereditary hemorrhagic disorder characterized by macrothrombocytopenia and the absence of alpha-granules in platelets. Clinically, mild-to-moderate bleeding is the main manifestation, often accompanied by thrombocytopenia, splenomegaly, and myelofibrosis. Here, we present a case of a 15-year-old male patient with a history of hepatosplenomegaly, and thrombocytopenia for 8 years, who presented with sudden generalized abdominal pain. Despite initial suspicion of gastroenteritis, diagnostic imaging revealed an extensive hemoperitoneum. Subsequent genetic testing confirmed the diagnosis of GPS, which had not been previously identified. This case highlights the importance of considering inherited platelet disorders should be considered in adolescents with long-standing thrombocytopenia, and emphasizes the need for thorough evaluation in patients with suggestive symptoms.