Journal of Blood Medicine最新文献

In this report, the patient was a 57-year-old woman who had been diagnosed with aplastic anemia for 3 years. This patient underwent allogeneic hematopoietic stem cell transplantation (allo-HSCT). Twenty-four months after allo-HSCT, the patient experienced cognitive dysfunction, memory loss, and involuntary movements. Various central nervous system (CNS) complications may occur after allo-HSCT, which can lead to severe clinical problems. Diagnosis is often difficult because of the absence of distinctive clinical symptoms. In addition, different neurological disorders may show similar symptoms. Although antibodies in the CSF or serum have become well recognized in several CNS disorders, cases of autoimmune CNS disorders after allo-HSCT have rarely been reported. Here, we report the case of a patient who developed encephalitis associated with antibodies against glial fibrillary acidic protein (GFAP) after allo-HSCT. To the best of our knowledge, this is the first report of the involvement of antibodies against GFAP in post-transplantation encephalitis. Of course, all processes met the ethical and patient consents were obtained.

Vitamin B₁₂ is essential for various bodily functions, and its deficiency may cause hematological manifestations. We report a case of a previously healthy 65-year-old female who was admitted to our hospital with reduced sense of taste and painful tongue. The serum level of vitamin B₁₂ was decreased. However, her complete blood count did not show any evidence of macrocytosis, instead, her mean corpuscular volume was low. Gene sequencing indicated an β-thalassemia minor and that probably masked the megaloblastic features of vitamin B₁₂ deficiency.

Purpose: Our study aims to describe the mortality trends and disparities among individuals with thalassemia in the United States (US).

Patients and methods: We used CDC WONDER database to calculate the age-adjusted mortality rates (AAMRs) per 1,000,000 individuals and used the Joinpoint Regression Program to measure the average annual percent change (AAPC). Subgroup evaluations were performed by sex, age, race, census region, and urbanization level.

Results: From 1999 to 2020, there were 2797 deaths relatd to thalassemia in the US. The AAMR of thalassemia-related death showed a decreasing trend from 0.50 (95% CI, 0.41-0.58) in 1999 to 0.48 (95% CI, 0.41-0.55) in 2020 with the AAPC of -1.42 (95% CI, -2.42, -0.42). Asians have the highest AAMR (1.34 [95% CI, 1.20-1.47]), followed by non-Hispanic Blacks (0.65 [95% CI, 0.59-0.71]), non-Hispanic Whites (0.32 [95% CI, 0.30-0.33]), and Hispanics (0.11 [95% CI, 0.08-0.14]). Cardiovascular disease remains the leading cause of death among individuals with thalassemia. The urban population has a higher AAMR than the rural population (0.43 [95% CI, 0.41-0.45] vs 0.29 [95% CI, 0.26-0.32]).

Conclusion: Our study calls for targeted interventions to address the racial and geographic disparities existed among individuals of thalassemia in the US.

Background: No specific data have been systematically collected regarding lymphoma patient characteristics, while non-Hodgkin lymphoma (NHL) is identified as the 7^th most common cancer and Hodgkin lymphoma (HL) is the 28^th. Inflammation plays an important role in the pathogenesis and progression of lymphoma. Malnutrition is an adverse prognostic factor in lymphoma. Systemic Inflammatory Index (SII), Prognostic Nutritional Index (PNI), and Advanced Lung Cancer Inflammation Index (ALI) were biomarkers depicting inflammation and nutritional status. This study aims to describe the clinical and biomarker characteristics of both HL and NHL patients.

Methods: This descriptive study used a cross-sectional design, and data were collected from Hasan Sadikin Hospital lymphoma registry from January 2020 to November 2023. Demographic, staging, and histopathological data were extracted. Three biomarkers were evaluated. Survival curves were drawn using Kaplan-Meier curve analysis, and the log rank test was used for comparison of survival between early and advanced stage.

Results: A total of 271 patients were recruited as participants, and the majority (80.5%) had NHL, with diffuse large B-cell lymphoma (DLBCL) being the most common histopathological type (50.5%). Early disease was observed in two-thirds of patients, and low-risk International Prognostic Index (IPI) score was the most common prognostic score found (95%). SII was slightly higher in early compared to advanced stages. Treatment response was evaluated from 101 patients, and complete response was observed in 44.5%. Two-year overall survival (OS) was 93.1%, with median survival 22.7 (95% CI 21.9-23.5) months. In early stage, the median survival was slightly longer than in advanced stage [23.0 (95% CI 22.2-23.8) vs 21.6 (95% CI 19.3-23.8) months, P=0.09].

Conclusion: Hodgkin lymphoma and DLBCL had similar clinical and biomarker characteristics. There were slight differences between the three biomarkers SII, ALI, and PNI based on the disease stage. Almost all patients still survived at 2-year follow-up.

Multiple myeloma (MM) is a malignancy of plasma cells that can cause anemia due to renal failure and bone marrow failure. Secondary polycythemia (SE) is a clinically rare disease that involves the overproduction of red blood cells. To our knowledge, the association of multiple myeloma and polycythemia has been reported, but the association of SE and multiple myeloma is rare and has been infrequently reported in literature. In contrast to anemia, the presence of polycythemia in multiple myeloma patients is a rare finding. A patient of IgA-λ multiple myeloma with secondary erythrocytosis recently admitted to our department is now reported as follows and relevant literature is reviewed to improve clinicians' awareness of such rare comorbidities.

Combined thrombophilia represents 7.8-8.3% of the patients with thrombophilia and confers a higher risk for thrombosis development and recurrence. Here, we present a 17-year-old boy carrier of three congenital thrombophilias, two severe (type I antithrombin deficiency and type I protein S deficiency) and one prothrombotic polymorphism (prothrombin G20210A), all in heterozygosis. He developed an extensive deep venous thrombosis in lower left limb, reaching proximal inferior vena cava and contralateral iliac vein, in the setting of prolonged rest. Endovascular therapy with local thrombolytic agent infusion followed by mechanical thrombectomy was performed, achieving a favorable clinical and radiological evolution. Antithrombin replacement to achieve levels between 80% and 120% with heparin administration was used during the endovascular procedure. The patient is currently asymptomatic and maintains indefinite anticoagulation with warfarin, keeping an appropriate anticoagulation range (international normalized range between 2.5 and 3.5).

Primary cranial neurolymphomatosis (PCNL) is a rare subtype of primary CNS lymphoma (PCNSL) in which infiltrative lymphomatous involvement is confined to cranial nerves. Here, we report a case of PCNL with successful genomic profiling. A 57-year-old male had a lengthy prediagnostic phase spanning approximately 30 months, characterized by multiple episodes of cranial neuropathies managed by steroids. At the time of diagnosis, the patient had right-sided cranial neuropathies involving cranial nerves (CN) V, VI, and VII. Pathological findings of the right cavernous lesion biopsy were consistent with large B-cell lymphoma-infiltrating nerve fibers. The clinical course was aggressive and refractory, characterized by relentless progression with the development of cervical spinal neurolymphomatosis, cerebrospinal fluid involvement, and ependymal and intraparenchymal cerebral involvement, despite multiple lines of therapy, including chemoimmunotherapy, Bruton's tyrosine kinase inhibitor, radiation, autologous stem cell transplant, chimeric antigen receptor T-cell therapy (CAR-T), and whole-brain radiation. The patient survived for 22 months from the time of the initial diagnosis and 52 months after the first episode of cranial neuropathy. Next-generation sequencing identified mutations (MYD88, CD79b, and PIM1) that are frequently observed in PCNSL. The unusual findings included a total of 22 mutations involving PIM1, indicating a highly active aberrant somatic hypermutation and two missense CXCR4 mutations. CXCR4 mutations have never been described in PCNSL and may have implications for disease biology and therapeutic interventions. We provide a literature review to further elucidate PCNL.

Immune checkpoint inhibitor-related thrombocytopenia (irTCP) is a relatively rare immune-related adverse event (irAE); however, overall survival may worsen when it occurs. Prolonged use of high-dose steroids can diminish the effectiveness of immune checkpoint inhibitor (ICI) therapy on the primary disease because of T lymphocyte suppression, thus early tapering is necessary. We experienced a rare case of a 79-year-old male who concurrently developed irTCP and multiple myeloma (MM) during treatment with ICIs for lung adenocarcinoma. The patient exhibited severe thrombocytopenia and elevated serum IgA levels. Based on various tests, we diagnosed MM and irTCP. Despite administering the standard bortezomib plus dexamethasone (Bd therapy) treatment for MM, there was no response and the irTCP was steroid-resistant. Consequently, we administered a regimen including daratumumab (DPd therapy) for steroid-resistant irTCP and refractory MM, which resulted in a response. As a result, we were able to avoid prolonged use of high-dose steroids and the patient is stable without exacerbation of lung adenocarcinoma for 1 year and 5 months after the onset of MM. To our knowledge, there are no cases of MM developing during ICI treatment and this is the first case report in which daratumumab was effective for the treatment of irTCP.

Background: Numerous biomarkers are used as diagnostic, prognostic, and predictive indicators of myocardial ischemia. The most commonly used biomarkers are cardiac troponin I (Tn-I) and creatinine kinase (CK-MB). However, in developing nations, their availability in primary care settings is extremely limited. In such situations, easily available assays such as complete blood count (CBC) should be investigated as prognostic indicators in individuals with acute coronary syndrome (ACS).

Objective: This study aimed to compare the pattern of haematological indices and blood cell ratios of ACS patients compared with apparently healthy controls.

Methods: Patients diagnosed with ACS were recruited consecutively between 01 May 2022 and 31 October 2023 at Jimma Medical Center (JMC). Biochemical analyses and complete blood counts were performed. Analysis of variance was performed to compare the continuous variables. Spearman correlation coefficient tests were performed to correlate hematologic parameters with high sensitive troponin-I (hs-Tn-I) levels.

Results: This study enrolled 220 participants (110 patients with ACS and age, sex, and place of residence matched 110 non-ACS controls). From ACS group 99 (90%) were diagnosed with ST-elevated myocardial infarction. The ACS group had a significantly greater mean platelet volume (MPV), white blood cell count, red cell distribution width (RDW), neutrophil-to-lymphocyte ratio, and platelet-to-lymphocyte ratio. The RDW (r = 0.248, p = 0.009) and MPV (r = 0.245, p = 0.009) were significantly positively correlated with hs-Tn-I levels in the ACS group. MPV, RDW, and monocyte count were significantly higher in non-survivor ACS patients (p <0.05).

Conclusion: The significant differences observed in haematological parameters between individuals with ACS and healthy controls suggest the potential utility of these easily accessible and cost-effective diagnostics in predicting future morbidity and ACS risk. Incorporating these routine evaluations into clinical practice could enhance risk assessment and improve patient outcomes.

Background: Human hemoglobin of G-Makassar and hemoglobin E (Hb E) are hemoglobin variants that affect Beta (β) globin. Hb G-Makassar is a very rare variant while Hb E is estimated to affect at least one million people worldwide. Both Hb G-Makassar and Hb E can be inherited in the heterozygous, homozygous or compound heterozygous state. This case series describes the characteristics of four individuals with compound heterozygosity for Hb G-Makassar/Hb E cases in Malaysia. To the best of our knowledge, these are the only four individuals with this genotype reported in the literature.

Case series: We present four cases of compound heterozygosity for Hb G-Makassar/Hb E identified from October 2014 to January 2021. All the cases were incidental findings whereby the screening Hb analysis showed the presence of peaks in both Hb S and Hb E zones on capillary electrophoresis (CE) and cation-exchange high-performance liquid chromatography (HPLC). Molecular analysis confirmed the findings of compound heterozygous Hb G-Makassar/Hb E. Two cases had a history of anemia secondary to unrelated conditions that resolved with treatment of the underlying cause. The other two cases were asymptomatic individuals who were detected through Malaysia's National Thalassemia Screening program. On the last follow-up, all the individuals were well, non-transfusion dependent, and had no reported history of chronic anemia, bleeding, hemolysis or thromboembolism complications.

Conclusion: The cases reported here highlight the possibilities for rare compound heterozygous states in multi-ethnicity populations such as Malaysia. Compound heterozygous Hb G-Makassar/Hb E individuals are clinically silent with laboratory values suggesting microcytic and hypochromic red blood cells. Further local epidemiology or population studies with genotyping tests are required for a better understanding of the diversity of its clinical phenotype.