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.

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BACKGROUND: The recurrent somatic variations in IDH1/2 genes in AML play imperative roles in epigenetic dysregulation and the pathogenesis of AML, which could be useful prognostic markers for risk stratification. AIM: The aim of the study was to detect the frequency of R132 mutations in the IDH1 gene and R140Q mutation in the IDH2 gene with their treatment outcomes. PATIENTS, MATERIALS AND METHODS: IDH molecular alterations were detected by high-resolution-melting (HRM)-based real-time PCR assay in 56 newly diagnosed AML patients. RESULTS: IDH molecular alterations were identified in 39.3% of AML patients; IDH1 R132 and IDH2 R140Q mutations were present in 32.1% and 12.5% of patients, respectively. The mean age of patients with mutant IDH (52±14.87 years) is higher than in wild type (41.68±20.4 years), P = 0.041. Females were seen in 53% of mutant IDH patients while in the wild-type 73.3% were males (P = 0.038). There were significantly lower mean levels of hemoglobin, absolute neutrophil count, and platelet count in mutant IDH than in wild-type (P = 0.015, 0,.03 and 0.01, respectively). After induction remission therapy, 68.2% of mutated IDH and 64.7% of unmutated IDH patients didn't achieve complete remission (P > 0.05). After 6 months; 59.1% of mutated IDH and 64.7% of unmutated IDH had unfavorable outcomes (P > 0.05). CONCLUSIONS: IDH mutations are common in Iraqi adult AML patients and present in older age and females predominance with lower Hb level, WBC count, absolute neutrophil count, platelet count, and less extramedullary involvement. There is an insignificant association with treatment outcomes.

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BACKGROUND: Homocysteinemia is regarded as potential predictor for vaso-occlusive phenomenon often observed in sickle cell hemoglobinopathy. The objective was to determine the relationship of these genotypes with homocysteinemia and the predictive coefficient of these polymorphisms on the vascular-related crisis in the presence of sickle cell gene. MATERIALS AND METHODS: The case-control study comprised 89 children diagnosed with sickle disease with features of vascular crisis, 160 children without crisis and 252 apparently healthy children as the control group. The genotypes were assayed for C677T and A1298C variants and their association and predictor effect for homocysteinemia of different grades were analyzed. Sequential multiple regression model was used to assess the predictive effect. RESULTS: Homocysteine levels were significantly higher in the crisis group (P < 0.001). When compared to the wild genotype the variants depicted significantly raised homocysteine levels (P < 0.001). The prevalence of C677T was 29.9% and that for A1298 was 66.3% in the study population. The odds for crisis was 2.3 times for crisis in TT677 and 1.34 times in CC1298 variants. The genotypes revealed a significant association with different grades of homocysteinemia (P < 0.001). Plasma homocysteine depicted significant negative correlation with weight, height, body mass index and hemoglobin levels. None of the TT variants reported normal homocysteine values. Shift toward the variant form showed an increase of homocysteine levels by 7.3 units and 6.9 units for C677T and A1298C single-nucleotide polymorphisms respectively. CONCLUSION: Co-presence of methylenetetrahydrofolate reductase C677T and A1298C polymorphisms could be important predictor for homocysteinemia and thus contribute toward vascular crisis in sickle cell patients.

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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.

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BACKGROUND: Pancytopenia generally suggests the likelihood of bone marrow failure syndromes or leukemias. However, other easily treatable entities can also cause pancytopenia. To know the underlying cause of pancytopenia is essential for definite management and prognosis. AIM: The aim of this study is to study the prevalence, clinico-hematological profile, and etiology of pancytopenia in hospitalized children of 1 month to 18 years of age. METHODS: Descriptive study conducted in a tertiary care center included children of age 1 month to 18 years hospitalized with pancytopenia. Sociodemographic data, presenting complaints, and detailed history were noted. Detailed clinical examination and relevant investigations were done. RESULTS: The prevalence of pancytopenia was 2%. Majority of the patients were >10 years of age. Female: Male ratio was 1.15:1. The most common presentation was progressive pallor, followed by fever, icterus, and bleeding manifestations. The most common clinical examination finding was pallor, followed by splenomegaly, hepatomegaly, icterus, and lymphadenopathy. Macrocytic blood picture was most common, followed by microcytic, atypical cells, and normocytic picture. Mean serum ferritin (ng/ml) was 374.77 ± 1662.64. Mean serum B12 (pg/ml) was 117.72 ± 64.71. In bone marrow aspirate examination, megaloblastic erythropoiesis was most common, followed by normoblastic erythropoiesis, dual deficiency, malignant cells of lymphoid series, hypocellular marrow, and malignant cells of myeloid series. Megaloblastic anemia was the most common etiology, followed by dimorphic anemia amid acute leukemia. CONCLUSION: The study showed that megaloblastic anemia and infections (tuberculosis, dengue fever, and enteric fever) both of which are eminently treatable, cause nearly 65% of pancytopenia cases in pediatric patients.

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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.

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AIMS: The aim of this study was to investigate the relationship between maternal anti-A\-B titers and the values of hemoglobin and indirect bilirubin in ABO-hemolytic disease of the newborn (ABO-HDN) afflicted newborns and to develop a cutoff of total and immunoglobulin G (IgG) antibodies for treatment needs in neonates in Latakia. STUDY DESIGN: A case–control study of 40 positive direct antiglobulin test (DAT) neonates who were ABO incompatible with their mothers and 20 healthy DAT-negative ABO incompatible neonates. Total and IgG anti-A\-B titers were compared between the two groups, and their correlation with newborns' hemoglobin and indirect bilirubin and the need for treatment were evaluated. RESULTS: Both the maternal anti-A\-B total and IgG titers in the ABO-HDN group were significantly higher than in the control group (P < 0001). A significant correlation between maternal IgG titers and indirect bilirubin was found, but not between total antibody titers and indirect bilirubin. A negative correlation between total and IgG titers and hemoglobin was also documented. The IgG cutoff value for ABO-HDN incidence and the need for treatment was 128 with sensitivity and specificity of 92.5% and 95%, and the total antibodies cutoff value was 64, with a sensitivity and specificity of 62.5% and 90%, respectively. CONCLUSION: Maternal total and IgG anti-A\-B can be an important prediction for the occurrence of ABO-HDN and evaluation of the neonates' hyperbilirubinemia after birth. Therefore, the routine detection of the titer of these antibodies and especially in mothers who have a high antibodies titer and a record of a previous jaundiced neonate can be an additional step in the ABO-HDN assessment of neonate.

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BACKGROUND: The most prevalent inherited disorders of red blood cells are hemoglobinopathies, with thalassemia and sickle cell diseases (SCDs) being the most common. In SCD and thalassemia major, angiogenesis has been identified as a substantial contributor to vascular-mediated tissue damage. Vascular endothelial growth factor (VEGF) is the master regulator of angiogenesis. This study aims to assess the circulating level of serum VEGF in beta-thalassemia (β-thal) and sickle β-thal patients and also to explore the correlation with clinical and laboratory data. PATIENTS, MATERIALS AND METHODS: This is a cross-sectional study conducted on 80 individuals, clinical data were gathered, complete blood count, serum ferritin, and serum VEGF tests were done. RESULTS: Patients' age ranged from 1.5 to 17.5 years, males formed (70%). Platelet count was significantly higher in β-thal compared to sickle/β-thal (S/β-thal) patients, with a P = 0.015. Mean serum ferritin in patients was significantly higher in β-thal compared to S/β-thal patients, P < 0.001. Patients' serum VEGF levels were noticeably higher than controls with P = 0.01. Strong positive correlation of serum VEGF with platelet count among the patients (r = 0.603, P < 0.001). A significant positive correlation was observed between serum VEGF and the age of starting chelation therapy in thalassemic patients (r = 0.475, P = 0.006). CONCLUSIONS: Serum VEGF levels were significantly higher in patients compared to healthy controls, and there is a significant positive correlation between serum VEGF levels and the age at which iron chelation therapy was initiated as well as between serum VEGF levels and platelet counts in patients.

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INTRODUCTION: Serum erythropoietin (S. EPO) continues to be a minor diagnostic criterion for discriminating polycythemia vera (PV) from other causes of erythrocytosis. However, in the current era of Janus kinase 2 (JAK2) mutation testing, its relevance for establishing the diagnosis of PV is controversial. AIMS AND OBJECTIVES: The study aimed to assess the utility of S. EPO in patients with absolute erythrocytosis and ascertain its sensitivity and specificity for establishing the diagnosis of PV. Further, the clinicopathological features of PV and JAK2-EPO^low erythrocytosis were compared to discriminate the two disease states. MATERIALS AND METHODS: A total of 286 samples had undergone concomitant testing for S. EPO levels and JAK2V617F mutation for various indications over a period of 60 months (January 2017–December 2021). Clinical details and laboratory parameters were retrieved from the electronic medical records. RESULTS: Among 203/286 (70%) patients with erythrocytosis, JAK2 positivity was noted in 49 (24.1%) patients. A subnormal S. EPO level (<3.2 mIU/mL) was noted in only 27/43 (62.7%) cases of de novo PV, while the postphlebotomy PV patients (n = 6) had normal S. EPO levels. The sensitivity and specificity of low S. EPO for establishing the diagnosis of PV were 62.7% and 77.4%, respectively, while the sensitivity and specificity of high Hb levels (>16.5 g/dL) with low S. EPO and for diagnosing PV was 62.7% and 79.0%, respectively, while the sensitivity of high Hb levels with JAK2 positivity was 89.7%. In addition, 14.7% (30/203) of cases of high Hb/hematocrit (median: 18 g/dL and range: 16.3–23.8 g/dL) belonged to the JAK2^-EPO^low subgroup. The median age of these patients, red blood cell count, total leukocyte count, and platelet count were, however, significantly lower as compared to the PV (P < 0.05). CONCLUSION: Overall, a low sensitivity and specificity of S. EPO were observed for diagnosing PV as an isolated investigation, thus questioning its diagnostic utility, though high levels had an excellent negative predictive value. However, this simple and inexpensive test remains an important screening tool for evaluating patients with absolute erythrocytosis.

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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.

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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.

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BACKGROUND: Postoperative venous thromboembolic events (VTEs) are a preventable cause of death. Adherence to available guidelines and prophylactic measures is suboptimal. This study examined postoperative VTEs prevalence, prophylaxis guideline adherence, and VTEs risk factors among surgical patients at King Abdulaziz University Hospital in Saudi Arabia. METHODOLOGY: This retrospective study analyzed VTEs patients from August 2020 to November 2022. Medical records collected data on patients, procedures, prevention, guideline adherence, and VTEs diagnosis. The statistical analysis evaluated the link between prophylactic measures and VTEs occurrence. RESULTS: Thirty-one (32%) of the 97 VTEs diagnosed in patients were postoperative VTEs. Mortality rates were 18.5%, and for postoperative VTEs patients were 12.9%. Most patients (87.1%) were at high risk (Caprini score ≥ 5) for VTEs. Abdominopelvic procedures were 64.5% of cases. Approximately 60% of patients received postoperative prophylaxis. Enoxaparin was the most frequently used prophylaxis method (63.1%). Mechanical prophylaxis was used in 36.8% of patients who received prophylaxis. Compliance for extended prophylaxis was only 10.5%. Late initiation of prophylactic measures was significantly associated with deep vein thrombosis occurrence. CONCLUSION: The study emphasizes the need to follow prophylaxis guidelines. Improving compliance with prophylactic measures, especially for high-risk patients, can potentially reduce postoperative VTEs.

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AIMS: Immune thrombocytopenia (ITP), also known as immune thrombocytopenic purpura, is an autoimmune disorder characterized by a low platelet count in the blood. This study aimed to assess the health infrastructure in Iraq regarding the diagnosis and management of patients with immune thrombocytopenia (ITP), with a focus on the use of guidelines in ITP management. SETTINGS AND DESIGN: This was a cross-sectional study carried out between October and November 2022 to assess ITP diagnosis, management, and the use of guidelines in 18 governorates in Iraq. MATERIALS AND METHODS: Invited to this study were 79 hematologists who were registered in the Iraqi Society of Hematology and who practiced in the 18 governorates. Out of the 79 hematologists, 65 participated in this survey. Data were collected using a questionnaire. STATISTICAL ANALYSIS USED: IBM SPSS 28 for Windows was used for the analysis and Microsoft Excel was used for creating the graphs. Descriptive statistics were presented in the form of numbers and percentages as all variables were categorical. RESULTS: The most requested routine tests were manual assessment of platelet count (83.1%), blood film (98.5%), virology screen (90.9%), connective tissue screen (85.9%), and prothrombin time and partial thromboplastin time (78.5%). More than 80% of the hematologists request bone marrow aspiration for the patients who have no response to the first-line treatment. Only the genetic test and the quantitative immunoglobulin level testing were available in the private sector both by (100%), while the other tests were available in both sectors. More than 85% treat the patients as outpatients. Active bleeding, not platelet count, was the indication for hospitalization for 60% of the hematologists. Corticosteroids were chosen as the first choice as initial treatment by (93.8%), intravenous immunoglobulin the second choice by (6.2%). In the second-line treatment, rituximab was chosen as the first choice by (75.3%), and eltrombopag as the second choice (65%). Only 83% of the hematologists referred to a guideline, and the American Society of Hematology guideline was the most referred to. CONCLUSIONS: These results showed the need to establish national guidelines for the Diagnosis and Management of Immune Thrombocytopenia in Iraq to be able to effectively treat the laboratory findings and physical symptoms of ITP in addition to address the patient's emotional and mental health needs.

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BACKGROUND: Erythrocyte sedimentation rate (ESR) is a widely used simple and cost-efficient lab test for the diagnosis and follow-up of many diseases. Even though the Westergren method is considered as gold standard, it has many drawbacks such as long test time duration, infection risk to technician, and need of citrated blood sample and to overcome these limitations, automated ESR analysis techniques have been introduced. This study aimed to compare and assess the agreement as well as to analyze the correlation between the ESR values obtained by two automated ESR analysis techniques– Ves Matic Cube 30 and Mixrate-X20 against the gold standard–Modified Manual Westergren method. MATERIALS AND METHODS: Four milliliter blood samples were collected from 1174 patients who came to the Central laboratory with complete blood count and ESR test request forms, after taking informed consent. Each of these samples was subjected to ESR test in both Mixrate X20 and Ves Matic Cube 30, followed by ESR analysis through the modified manual Westergren method. All values obtained were recorded and analyzed using SPSS software. Mean, standard deviation, Bland–Altman agreement analysis, Linear regression, and Pearson's correlation coefficient analysis was done. RESULTS: Of 1174 study samples, 588 were male and 586 were female and major proportion of the study sample was in the age group of 50–59 years. Bland–Altman agreement analysis of manual ESR Vs Ves Matic cube 30, showed a mean difference of −2.44 ± 13.01 with 95% limit of agreement (LOA) between −27.93 and 23.05 whereas it was 0.05 ± 1.68 with 95% LOA between −3.24 and 3.34 for manual ESR vs Mixrate X20. Pearson's correlation coefficient for manual ESR Vs Ves Matic Cube 30 was r = 0.891 whereas r = 0.998 for manual ESR Vs Mixrate X20, indicating a strong positive correlation between ESR values obtained through manual method and both automated ESR analyzers. CONCLUSION: ESR results from both automated analyzers are agreeable to the reference method with no proportional bias statistically. However, the results from Mixrate X20 ESR analyzer correlate very well with the manual ESR, with close readings that do not affect the clinical interpretation and so can be used in clinical laboratories to optimize workflow and use of human resources.

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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.

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