Journal of Applied Hematology最新文献

{"title":"Hydroxymethylbilane Synthase Gene Mutation: The Hidden Driver of Abdominal Pain and Neurological Symptoms in Acute Intermittent Porphyria","authors":"Abeer F Zakariyah, Rahaf Alzahrani, I. Alhazmi, Alia Abotaleb, Mohammed Alasmari, A. Basendwah, Rasha Alsubaie, Muhammad Sohaib Khan, Leena Alnajjar, Sultan Altouri","doi":"10.4103/joah.joah_19_24","DOIUrl":"https://doi.org/10.4103/joah.joah_19_24","url":null,"abstract":"\u0000 Mutations in the hydroxymethylbilane synthase (HMBS) gene can lead to a deficiency of the HMBS enzyme, allowing porphyrins to accumulate to toxic levels in the liver and other organs, leading to acute intermittent porphyria (AIP). This case report describes the medical journey of a 20-year-old female, previously in good health, who experienced multiple hospitalizations and clinic visits due to severe abdominal pain episodes and remained undiagnosed for over 6 years. Despite the nonspecific nature of these symptoms, a suspicion of acute porphyria confirmed by genetic analysis revealed a splice pathogenic variant (c.826-2A>T) in the HMBS gene in a heterozygous state. As the disease progressed, the patient developed a series of complications, including hyponatremia, autonomic instability, and motor neuropathy, culminating in complete paralysis (quadriplegia) and respiratory failure. The case highlights the importance of early recognition and differential diagnoses in managing AIP, with genetic testing playing a crucial role in confirming the diagnosis.","PeriodicalId":36501,"journal":{"name":"Journal of Applied Hematology","volume":" 40","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-04-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140691074","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Reticulocyte Hemoglobin Content: Advancing the Frontiers in Iron-deficiency Anemia Diagnosis and Management","authors":"Majed N. Almashjary","doi":"10.4103/joah.joah_103_23","DOIUrl":"https://doi.org/10.4103/joah.joah_103_23","url":null,"abstract":"\u0000 Iron-deficiency anemia (IDA) is a global health concern, and its widespread prevalence and multifaceted impact on various populations, particularly in developing countries, underscore the urgency for efficient diagnostic and management strategies. While traditional diagnostic methods such as ferritin and transferrin saturation are fundamental, their limitations in sensitivity and specificity lead to challenges in the early detection and effective management of IDA. This review provides a comprehensive analysis of IDA, focusing on the evolution of diagnostic methods culminating in the utilization of reticulocyte hemoglobin content (CHr) as a critical biomarker. The core of this review is the detailed examination of CHr as a biomarker. Its emergence has been pivotal due to its superior sensitivity and specificity in identifying iron deficiency and monitoring therapy efficacy. The review discusses the comparative advantages of CHr over conventional methods, including its ability to detect IDA at an earlier stage and its utility in varied demographic groups, such as children and pregnant women. Future research directions are proposed, including integration of CHr into routine clinical practice, cost-effectiveness analysis, and technological advancements for enhanced measurement and accessibility. In conclusion, CHr holds significant potential for revolutionizing IDA management, paving the way for more precise and personalized medical interventions, thereby improving patient outcomes in diverse populations.","PeriodicalId":36501,"journal":{"name":"Journal of Applied Hematology","volume":"30 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-02-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140425968","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Plasmablastic lymphoma in Epstein–Barr virus-negative patient","authors":"Ghaidaa R. AlSahari, Adel F. Al-Marzouki, Salwa I. A. Bakhsh, Bushra Shehabaddin Albaity, Rahf Essam Hamad","doi":"10.4103/joah.joah_100_23","DOIUrl":"https://doi.org/10.4103/joah.joah_100_23","url":null,"abstract":"\u0000 Plasmablastic lymphoma is a rare and aggressive variant of diffuse large B-cell lymphoma. It often develops in immunocompromised patients, particularly in human immunodeficiency virus-positive individuals. This report highlights the development of such a rare, aggressive malignancy in an immunocompetent adult male with negative Epstein–Barr virus serology. The patient was diagnosed 6 months after the onset of neck and submandibular swelling. A pan-computed tomography scan revealed nodal and extranodal involvement of the iliac bone and iliacus muscle. Chemotherapy was planned, but the patient’s condition deteriorated and he died. This case helps us to understand the clinicopathological features of this malignancy in the Saudi population and may help in early detection and better prognosis.","PeriodicalId":36501,"journal":{"name":"Journal of Applied Hematology","volume":"23 11-12","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-02-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139853737","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Plasmablastic lymphoma in Epstein–Barr virus-negative patient","authors":"Ghaidaa R. AlSahari, Adel F. Al-Marzouki, Salwa I. A. Bakhsh, Bushra Shehabaddin Albaity, Rahf Essam Hamad","doi":"10.4103/joah.joah_100_23","DOIUrl":"https://doi.org/10.4103/joah.joah_100_23","url":null,"abstract":"\u0000 Plasmablastic lymphoma is a rare and aggressive variant of diffuse large B-cell lymphoma. It often develops in immunocompromised patients, particularly in human immunodeficiency virus-positive individuals. This report highlights the development of such a rare, aggressive malignancy in an immunocompetent adult male with negative Epstein–Barr virus serology. The patient was diagnosed 6 months after the onset of neck and submandibular swelling. A pan-computed tomography scan revealed nodal and extranodal involvement of the iliac bone and iliacus muscle. Chemotherapy was planned, but the patient’s condition deteriorated and he died. This case helps us to understand the clinicopathological features of this malignancy in the Saudi population and may help in early detection and better prognosis.","PeriodicalId":36501,"journal":{"name":"Journal of Applied Hematology","volume":"211 4","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-02-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139793595","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Approaches to multiple myeloma management in gulf countries: A narrative review insights from the Kingdom of Saudi Arabia and gulf multiple myeloma experts","authors":"F. Al Sharif, Ahmad Alhuraiji, A. Alam, A. Alhejazi, H. Osman, Hesham El Sabah, Faraz Khan, M. Alahmadi, M. Alzahrani, Mustaqeem Siddiqi, Omar Abdeljalil, A. Hesham, Magdy Rabea, Waleed Hannout, M. Marashi","doi":"10.4103/joah.joah_110_22","DOIUrl":"https://doi.org/10.4103/joah.joah_110_22","url":null,"abstract":"Multiple myeloma (MM) is neoplasm of the plasma cells derived from the postgerminal B-cell lineage and it ranges from premalignant conditions like monoclonal gammopathy of unknown significance and smoldering MM (SMM) to malignant diseases such as overt MM. With advances in science and technology, the understanding of the disease has increased paving the way for advanced therapeutic options and better patient outcomes. Thus, this article is a narrative review summarizing the recent advances in the epidemiology, clinical presentation, risk stratification, and MM patient populations treatment and to provide insights by the authors who are experts in the field of MM management who are considered as Gulf Myeloma Working Group and who were the members of 'Approaches to MM Management' Advisory Board meeting held on October 29, 2021. The expert panel provided several recommendations and drawn consensus statements pertaining to MM management in the Gulf countries.","PeriodicalId":36501,"journal":{"name":"Journal of Applied Hematology","volume":"14 1","pages":"71 - 77"},"PeriodicalIF":0.0,"publicationDate":"2023-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"49453820","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Clinicopathological features of rare bleeding disorders in high consanguinity population; A retrospective analysis from two tertiary hospitals in Saudi Arabia","authors":"Mansour S. Aljabry, Fahad Alabbas, G. Elyamany, Q. Sedick, O. Alsuhaibani, Huda Elfaraidi, Azzah Alzahrani, Sultan N. Alotaibi, Mohammed Alqahtani, A. Alshahrani, Muaddi Alharbi, Hassan Abusabah, Lulwa Alremali, A. Alameen, M. Almohammadi","doi":"10.4103/joah.joah_103_22","DOIUrl":"https://doi.org/10.4103/joah.joah_103_22","url":null,"abstract":"BACKGROUND: Rare bleeding disorder (RBDs) encompasses a deficiency of one or more of FXIII, FXI, FX, FVII, FV, FII, and FI clotting factors, leading to bleeding disorders with variable presentations and outcomes ranging from none or minimal to life-threatening events. RBDs are still underdiagnosed and underreported, especially in Saudi population with a high prevalence of consanguinity. OBJECTIVES: The study aimed to determine the frequency of RBDs, grading of their bleeding severity, and assessment of clinical manifestations and management of RBDs in tertiary Saudi Arabian hospitals. DESIGN AND SETTINGS: This retrospective study of RBDs describes the clinicopathological features of refereed cases to both Prince Sultan Military Medical City and King Khaled University Hospital in Riyadh, Saudi Arabia, from September 2018 to September 2021. Any patient who had already been diagnosed or suspected to have RBDs was enrolled in the study. PATIENTS AND METHODS: Patient's medical records were reviewed for demographic data, clinical presentations, bleeding and family history, consanguinity, treatment outcomes, and molecular testing. Samples were run in specialized coagulation laboratories. Patients with liver dysfunction or acquired factor deficiency were excluded. Patients were categorized into four groups according to the severity of bleeding episodes: asymptomatic, Grade I, Grade II, and Grade III. RESULTS: A total of 26 cases with RBDs were identified during the study period. Most of the included patients are males and pediatrics (<14 years) representing 15 (57.7%) and 14 (53.8%), respectively. FVII was the most common factor deficiency encountered in 9 (35%) patients, followed by FXIII in 5 (19%), FXI in 4 (15%), FX in 3 (11.5%), FV in 3 (11.5%), and combined factor deficiency in 2 (8%) patients. 17 (65.4%) RBD patients presented with bleeding manifestation either with Grade I (9%), Grade II (39%), or Grade III (15%), whereas 47% were asymptomatic. CONCLUSION: The study emphasizes on importance of establishing a national registry of RBDs in Saudi Arabia and the need for further genetic studies to clarify the genotype/phenotype relationships.","PeriodicalId":36501,"journal":{"name":"Journal of Applied Hematology","volume":"14 1","pages":"101 - 107"},"PeriodicalIF":0.0,"publicationDate":"2023-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"42627165","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Challenges in the diagnosis of gaucher disease with multiple splenic lesions","authors":"A. Alshomar","doi":"10.4103/joah.joah_36_23","DOIUrl":"https://doi.org/10.4103/joah.joah_36_23","url":null,"abstract":"The progressive nature, multisystem involvement, and delayed diagnosis of Gaucher disease (GD) make it a challenging disorder. Herein, we report the clinical and genetic findings of a patient with GD of Saudi-Arab ethnicity. In this case, a young patient was discovered to have hepatosplenomegaly and whose radiological image revealed an unusual presentation of multiple nodular lesions in the spleen that were initially thought to represent benign hemangiomas. He had a splenectomy with a liver biopsy, which revealed features consistent with GD. The activity of β-glucocerebrosidase in dry blood spots was below its cutoff value. Molecular genetic analysis of the glucosylceramidase beta gene confirms the diagnosis. Enzyme replacement therapy was initiated.","PeriodicalId":36501,"journal":{"name":"Journal of Applied Hematology","volume":"14 1","pages":"171 - 175"},"PeriodicalIF":0.0,"publicationDate":"2023-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"42446555","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Mixed autoimmune hemolytic anemia in a 2-year-old girl","authors":"Asim J. Alamri, Abdulmohsen B Alsubhi, I. Bali, Abdullah Alsarrani, Arwa AlHujaili, Ahmad Tarwah","doi":"10.4103/joah.joah_95_22","DOIUrl":"https://doi.org/10.4103/joah.joah_95_22","url":null,"abstract":"Immune hemolytic anemia is diagnosed when it exhibits the clinical symptoms and laboratory findings of hemolytic anemia, such as pallor, jaundice, anemia, high indirect bilirubin, increased reticulocyte count, and a positive direct antiglobulin test. Depending on the type of antigenic stimulation, this condition can be divided into three distinct subtypes: (1) autoimmune hemolytic anemia (AIHA), (2) alloimmune hemolysis, and (3) drug-induced hemolysis. In addition, the thermal amplitude of autoantibodies is used to categorize AIHA as either a warm (most common), cold, or mixed (rare) subtype. Mixed autoimmune hemolytic anemia is diagnosed when both warm and cold autoantibodies are present. Here, we report a case of a mixed AIHA in a 2-year-old girl who responded well to corticosteroids. Due to the rarity of the condition and the lack of rigorous diagnostic criteria, it is crucial to report this case.","PeriodicalId":36501,"journal":{"name":"Journal of Applied Hematology","volume":"14 1","pages":"167 - 170"},"PeriodicalIF":0.0,"publicationDate":"2023-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"48672416","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A bibliometric analysis of anemia research in children or adolescents in the last 10 years: Advances, challenges, and perspectives","authors":"Keyla Flores-Briones, Sebastian Rios-Lopez, Frank Mayta-Tovalino","doi":"10.4103/joah.joah_27_23","DOIUrl":"https://doi.org/10.4103/joah.joah_27_23","url":null,"abstract":"INTRODUCTION: Both nationally and internationally, anemia is one of the greatest public health challenges. It mainly affects children, adolescents, and women of reproductive age and manifests itself in different etiological forms. To examine the worldwide scientific production on anemia in children and adolescents focusing on the Scopus database, in a period between 2011 and 2020, the present bibliometric study is proposed. METHODOLOGY: The Scopus database was used as the main data source to collect relevant manuscripts on anemia in children and adolescents from 2011 to 2020. The CSV data were exported to SciVal for analysis of most published topics, collaborations, most published institutions, productivity by journal category, most published journals, most published medical specialties, and most published authors. RESULTS: Of the 1784 manuscripts reported, it was shown that the year 2020 had the highest number of publications with 33, 19, 13, and 15 articles in the Q1 (top 25%), Q2 (top 26%–50%), Q3 (top 51%–75%), and Q4 quartiles (76%–100%), respectively. The University of Pennsylvania (USA), Johns Hopkins University (USA), and Baylor College of Medicine (USA) were the top three institutions with the highest article production. The top three places were for Pediatric Blood and Cancer, Public Health Nutrition, and Journal of Pediatric Hematology/Oncology with 20, 12, and 11 publications, respectively. CONCLUSIONS: In recent years, there has been evidence of an increase in the number of publications referring to anemia in children and adolescents, experiencing a notorious increase from 2015. In terms of scientific production, the United States, Egypt, and Canada are positioned as the leading countries in this field.","PeriodicalId":36501,"journal":{"name":"Journal of Applied Hematology","volume":"14 1","pages":"128 - 136"},"PeriodicalIF":0.0,"publicationDate":"2023-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"42345580","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Primary myelofibrosis with extramedullary hematopoiesis – A case report with a review of literature","authors":"G. Mehta, V. Rathod, Tejasvi Patel","doi":"10.4103/joah.joah_14_23","DOIUrl":"https://doi.org/10.4103/joah.joah_14_23","url":null,"abstract":"Primary myelofibrosis (PMF) is the least common of all myeloproliferative neoplasms (MPNs), characterized by a neoplastic transformation of early hematopoietic stem cells, predominantly megakaryocytes and granulocytes. The disease shows gradual evolution from an initial prefibrotic stage to an overt fibrotic stage. Janus kinase (JAK) 2, CALR, and MPL mutations are most common in nonchronic myeloid leukemia MPNs but are not always present. Ineffective marrow hematopoiesis leads to extramedullary hematopoiesis and associated symptoms such as splenomegaly, hepatomegaly, anemia, and pro-inflammatory cytokines-induced constitutional symptoms. The WHO criteria, 2016, consider the combination of clinical, morphological, and molecular genetics features for the diagnosis of the condition. Currently, Dynamic International Prognostic Scoring System is most widely used to predict the prognosis. Here, we report the case of a 63-year-old male diagnosed with the rare disease PMF with extramedullary hematopoiesis and bleeding gastric varices. PMF was diagnosed by bone marrow biopsy showing diffuse fibrosis, positive JAK2-V617F mutation in genetic analysis, negative Philadelphia chromosome, pancytopenia, splenomegaly, and raised leukocyte dehydrogenase.","PeriodicalId":36501,"journal":{"name":"Journal of Applied Hematology","volume":"14 1","pages":"163 - 166"},"PeriodicalIF":0.0,"publicationDate":"2023-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"42785301","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}