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   2020| July-September  | Volume 11 | Issue 3  
    Online since September 16, 2020

 
 
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REVIEW ARTICLE
Management algorithms for gaucher disease
Ayman Alhejazi, Abdulkareem AlMomen, Ahmad M Tarawah, Ahmed M AlSuliman, Hussain H Al Saeed, Mahasen Saleh, Marwan ElBagoury, Ohoud F Kashari, Omar M Hussein
July-September 2020, 11(3):93-101
DOI:10.4103/joah.joah_46_20  
INTRODUCTION: Gaucher disease is a challenging disease because of the progressive nature and multiple systems that are involved. Gaucher disease is underdiagnosed in Saudi Arabia. It is sometimes misdiagnosed with other hematological diseases. The prevalence is apparently higher than what is currently reported in the available literature. This might be mainly due to the high percentage of consanguinity, especially among tribes. The main objective of this consensus was to provide a comprehensive algorithm for the diagnosis of Gaucher disease for hematologists mainly. Gaucher-related peer-reviewed literature was discussed and adapted to match the practice in Saudi Arabia. Discussion of different Clinical presentations for adult and pediatric patients and improving access to Diagnostic testing like Enzymatic analysis and genetic testing to be able to find solutions for the issue of delayed diagnosis of Gaucher Disease in Saudi Arabia. METHODS: After a thorough literature review, the group discussed set of queries such as: The difference in adults and Pediatric Gaucher disease diagnostic algorithms in Saudi Arabia. The management goals for Gaucher disease and the local risk assessment parameters were discussed as well. In addition to the unmet needs in Gaucher disease, and reasons for delayed Gaucher disease diagnosis and their consequences. Then, the group adapted the algorithms after localizing each step. RESULTS: After reviewing different Gaucher disease diagnostic algorithms by Mistry PK et al for the adult age group and Di Rocco M et al for the pediatric age group, We were able to draft complete detailed algorithms for diagnosis of Gaucher. CONCLUSION: Gaucher disease is underdiagnosed or misdiagnosed. The actual prevalence can be higher than what is reported in the literature, and the current number of diagnosed cases does not reflect the actual prevalence.
  805 133 -
ORIGINAL ARTICLES
Impact of single-dose systemic glucocorticoids on blood leukocytes in hospitalized adults
Samah Alshehri, Khalid Eljaaly, Mohannad Alshibani, Michael Katz
July-September 2020, 11(3):116-121
DOI:10.4103/joah.joah_24_20  
BACKGROUND: Glucocorticoids (GCs) may cause leukocytosis through several mechanisms. The objective of this study was to examine the impact of a single-GCs dose on total white blood cell (WBC) count, absolute neutrophil count (ANC), and absolute lymphocyte count (ALC) in hospitalized adults without bacterial infections. METHODS: This retrospective cohort study included hospitalized patients ≥18 years of age who received a single dose of a systemic GC (oral or intravenous methylprednisolone and hydrocortisone and oral prednisone). Total WBC count, ANC, and ALC changes over the 72 h after GC administration were evaluated. RESULTS: A total of 99 patients were included. After the administration of a single-GC dose, ALC began to drop significantly as early as the interval of 0–<6 h (median interquartile range, 0.90 [0.60–1.10], P = 0.011). ANC increased significantly as early as the interval of 6–<12 h (6.22 [4.45–7.33], P = 0.049) and continued to be significantly increased from baseline up to 42 h from GC administration. Total WBC counts significantly decreased in the 6–<12 h interval (6.90 [5.15–8.85], P = 0.03) and then increased significantly in the 12–<18 h interval (8.80 [6.50–11.95], P = 0.002). This effect on total WBC count continued to be significant until the 36-<42 h interval (10.55 [7.23–13.03], P < 0.001). CONCLUSIONS: ANC followed by WBC count increased significantly after a single-GC dose in hospitalized patients within 12 h of a single-GC dose, while a decrease in WBC and ALC was seen within the first few hours of GC dose.
  842 86 -
CASE REPORTS
Bombay and Lewis phenotype testing in correlation with leukocyte adhesion deficiency type II: The blood bank's role in diagnosis
Khalid Batarfi, Ahmed Maded Al Harbi, Bryan Rosario, Abdullah Al Enazi, Paolo Domingo Kiseo
July-September 2020, 11(3):132-134
DOI:10.4103/joah.joah_85_19  
Leukocyte adhesion deficiency type II (LAD II) is a rare hereditary disorder caused by the mutation in the guanosine diphosphate-fucose transporter gene (SLC35C1). LAD II is characterized by inexpression of ABO antigens (i.e., Bombay phenotype) and the lack of Lewis red blood cell (RBC) antigens. In addition to high neutrophil counts, patients also manifest recurrent infections with developmental delays and stunted growth. Blood bank laboratory tests such as blood grouping, RBC phenotyping, antibody screening and identification of the nature of the antibody were conducted in order to confirm the consequences associated with this gene anomaly in this case report. Type and screen results initially identified the patient as group “O” Rh positive with pan-reactive antibody screening cells and identification panel cells. The patient plasma showed significant incompatibility to all O-positive donors' RBCs. The patient's RBCs were tested against anti-H lectin and Lewis (Lea, Leb) typing antisera and showed no reaction, which meant that the patient does not express neither Lewis antigens nor H antigen on his red cell. The presence of anti-H (in a Bombay phenotype individual) explained the reactivity to reagent red cells and crossmatched incompatibility of Group O units as these cells naturally contained the H antigen.
  752 60 -
ORIGINAL ARTICLES
Clinicolaboratory profile of leptospirosis: Observations from a tertiary care hospital
Thomas George, Michael L J. Pais, Mohammed Adnan, Romith Pereira, Ramakrishna Pai Jakribettu, Manjeshwar Shrinath Baliga
July-September 2020, 11(3):102-107
DOI:10.4103/joah.joah_11_20  
BACKGROUND: Leptospirosis is a neglected tropical disease caused by spirochete Leptospira interrogans. It is one of the notifiable diseases. It is under-reported and under-diagnosed in tropical countries, including India. AIM: The aim of this study is to compare the clinico-laboratory profile of leptospirosis patients with healthy individuals and survived with dead patients. MATERIAL AND METHODS: This was a retrospective study carried out in people diagnosed with leptospirosis. All the clinical features and laboratory parameters were studied and analyzed as per the Student's t-test. RESULTS: A total of 467 patients were diagnosed with leptospirosis during the study period 2013–2018. Males were majority, and most of the patients belonged to the age group of 31–45 years. Seventy-two patients (15.41%) succumbed to leptospirosis. Fever, vomiting, abdominal pain, jaundice were common symptoms. Leptospirosis patients had significant anemia, leukocytosis, thrombocytopenia, elevated liver, and renal parameters. Among the dead patients, significant neutrophilia, lymphocytopenia, hyperbilirubinemia, hyperuremia, and raised creatinine were observed compared with alive patients. CONCLUSION: Leptospirosis should be strongly suspected in male, working-age groups presenting with fever and jaundice. Anemia, leukocytosis, thrombocytosis were hematological changes in leptospirosis patients. Hepatic and renal dysfunctions with neutrophilia are the risk factors with increased mortality in patients with leptospirosis.
  533 83 -
Eradication of prior-to-treatment compound BCR-ABL mutations by interferon-alpha in chronic myeloid leukemia: Long-term follow-up studies and review of literature
Zafar Iqbal, Tanveer Akhtar, Ahmad M Khalid, Aamer Aleem, Amer Mahmood, Afia M Akram, Mahmood Rasool, Ijaz H Shah, Aysha Bhalli, Muhammad Khalid, Mudassar Iqbal, Abid Jameel, Nawaf Al-Anazi
July-September 2020, 11(3):108-111
DOI:10.4103/joah.joah_13_20  
BACKGROUND: Although tyrosine kinase inhibitors (TKIs) are the gold standard in clinical management of chronic myeloid leukemia, it is not feasible to use these drugs in at least some cases when patients are resistance to all available TKIs due to compound BCR-ABL mutations, due to patient safety profile or due to the nonavailability of drugs in developing countries on account of cost or logistic issues. We reported earlier that interferon alpha can eradicate compound BCR-ABL mutations and induce stable responses. Here, we report a follow-up of this study. PATIENTS AND METHODS: Some chronic myeloid leukemia (CML) patients did not get TKIs directly because of very high cost of imatinib and were given interferon alpha (experimental group) until the provision of imatinib free of cost through GLIVEC® International Patient Assistance Program while the other groups of patients (control group) were directly given imatinib. A very sensitive allele-specific polymerase chain reaction was employed to detect BCR-ABL compound mutations before treatment and confirmation of mutations was carried out using reliable molecular assays. Mutations were reinvestigated at all important time points during the long-term follow-up studies. RESULTS: The use of interferon-alpha for 6 months prior to TKIs eradicated compound BCR-ABL mutations (Phe311Val/Met351Thr and Thr315Ile/Phe311Val/Met351Thr) and provided deep molecular responses without any progression or mortality in CML patients (experimental group) as compared with patients who did not use interferon and was directly given TKIs (control group). CONCLUSIONS: Interferon alpha can eradicate highly resistant BCR-ABL mutations and lead to durable deep molecular responses to TKIs in CML. Therefore, interferon-alpha is recommended for CML patients with compound mutations resistant to TKIs, specifically in those scenarios where some TKIs are not available or not safe to use for CML patients. Our long-term follow-up study is well supported by recently published literature.
  497 73 -
Prevalence of A2and A2B subgroups along with anti-A1antibody in patients and donor population and its clinical significance
Debasish Mishra, Satya Prakash, Dibyajyoti Sahoo, Gopal Krushna Ray, Suman Sudha Routray, Pankaj Kumar Das, Somnath Mukherjee
July-September 2020, 11(3):112-115
DOI:10.4103/joah.joah_15_20  
BACKGROUND: The clinical significance of anti-A1antibody among A2and A2B subgroups is controversial. Few case reports have shown clinically significant anti-A1antibody at 37°C, causing hemolysis of donor red cells. The present study aims to find the prevalence of A2and A2B and the clinical significance of anti-A1antibody in these subgroups of A. MATERIALS AND METHODS: This prospective observational study was done in a tertiary care center in the eastern part of India. Gold standard test tube technique was used to determine blood group and distinguish A1from A2based on agglutination reaction with anti-A1lectin. Serum of A2and A2B subgroups was tested with A1red cells to confirm the presence of anti-A1antibodies. Further testing of anti-A1antibody was also performed to determine whether the antibody is IgM or IgG and of any clinical significance. RESULTS: A total of 2874 blood samples of both patients and donors were analyzed. Among A blood group, 98.4% were A1 and, whereas 1.6% were A2, whereas among AB blood group, A1B and A2B were 93.9% and 6.1%, respectively. Only 3 out of 13, A2B patients (23.07%) showed the presence of anti-A1antibody but without any clinical significance. CONCLUSIONS: Our study could not find any clinically significant anti-A1antibodies. Thus, we insinuate any requirement of mandatory testing for the determination of A1, A2,and anti-A1antibodies. Subtyping will help in the use of A2donor for renal transplant in O and B group patients and the use of A2platelets also in O and B group patients.
  449 74 -
Anatomical sites and clinical characteristics of venous thromboembolism in a tertiary hospital
Saeed Alshahrani, Abdulrahman Alfawzan, Ahmad Alswaidan, Ala Alkharaan, Mohammed Alabduljabar, Altaf Khan, Mohsen Alzahrani
July-September 2020, 11(3):126-131
DOI:10.4103/joah.joah_32_20  
BACKGROUND: Thrombosis is simply the inappropriate activation of clotting factors that occurs in veins. Venous thromboembolism (VTE) is a common medical problem in hospitalized patients that might progress into serious lethal complications. Provoked VTE is associated with well-known risk factors, while unprovoked VTE remains idiopathic. OBJECTIVES: The aim of this study is to describe the anatomical sites, clinical characteristics, and factors associated with recurrence of the thrombotic event within 5 years. METHODS: This retrospective cross-sectional study was conducted in King Abdulaziz Medical City (KAMC), which included 351 hospitalized patients consecutively. We included all Saudi adults diagnosed with initial VTE in 2006–2017 at KAMC. Patients with incomplete medical charts were excluded. The data collected from electronic charts were analyzed using SAS-9.4. RESULTS: Among the 351 participants, 52% were female and two-thirds (62.4%) exceeded the normal body mass index. Provoked VTE (53.5%) was slightly more prevalent than unprovoked VTE (46.4%), but unprovoked VTE was more frequent in populations with recurrent VTE at 19.1%. The most common VTE sites were the left lower limb (38.5%) followed by right lower limb (20.5%) then bilateral lower limbs (12.2%). Only pulmonary embolisms (<0.01) and unprovoked VTE (0.01) were associated with a higher risk of recurrence. However, unprovoked VTE (P = 0.0305) was the only one associated with a higher risk of recurrence after multivariant analysis. CONCLUSION: Venous thrombosis presents mostly with multiple clinical comorbidities in hospitalized patients. Unprovoked VTE was the only risk factor associated with recurrence after multivariant analysis.
  298 31 -
CASE REPORTS
Intestinal diffuse large B-cell lymphoma preceding cold agglutinin disease
Kapil Goyal, Roopa Sharma, Sandeep Garg
July-September 2020, 11(3):137-140
DOI:10.4103/joah.joah_39_20  
Cold agglutinin disease (CAD) is a rare form of autoimmune hemolytic anemia, which shows IgM antibodies in the serum of the patient against red blood cell antigens, showing maximal reactivity at 4°C. CAD can be idiopathic or secondary to infections such as mycoplasma, Epstein–Barr virus, cytomegalovirus, lymphoma, and plasma cell dyscrasia. It can present either as hemolytic anemia or acrocyanosis. We are reporting a case of CAD presenting with acrocyanosis, which initially did not show any secondary etiology despite extensive work-up. However, after a gap of 1½ years, the patient presented with intestinal obstruction, which was diagnosed to be due to malignant stricture secondary to intestinal diffuse large B-cell lymphoma. This association makes it important to follow-up cases of CAD without secondary etiology for the development of lymphoma in future.
  274 28 -
ORIGINAL ARTICLES
Demographic and clinical characteristics of lymphoma patients from Al-Ahsa, Saudi Arabia
Zafar Iqbal, Batoul Mustafa Almusawi, Fatimah Fouad Alhashim, Walaa Ali Aleassa, Zainab Yousef Albueisa, Anees Malik, Aysha Bhalli, Nawaf Alanazi
July-September 2020, 11(3):122-125
DOI:10.4103/joah.joah_30_20  
BACKGROUND: Lymphoma is a malignancy of the lymphatic system. As no studies have previously been conducted about lymphoma in Al-Ahsa, Saudi Arabia, we hereby present first report on demographic and clinical characteristics of lymphoma patients from Al Ahsa, Saudi Arabia from 2009 to 2018. PATIENTS AND METHODS: All histologically confirmed lymphoma patients from 2009-2018 attending KAH were included in the study. BCL2, BCL6 and C-MYC rearrangements were detected by fluorescence in situ hybridization. Data was analyzed using SPSS. RESULTS: Male to female ratio was 1:1.52 with 23 (39.7%) male and 35 (60.3%) female patients. Mean age was 35.9 years in Hodgkin lymphoma (HL) and 54.4 years in non-Hodgkin lymphoma (NHL). HL was found to be more common in the young age group (0-18 years, 85.7%), which is a new finding. NHL was more common in age group (41-60 years) (80%, P=0.002). Overall, HL was more common than NHL (60.3% vs 39.7%). The most common subtype of HL was nodular Sclerosis type (52.2%), while diffuse large B cell lymphoma (DLBCL) was the most common subtype (74.3%) of NHL. The most common sites of involvement (other than lymph nodes) in HL were liver and mediastinum (19% and 18% respectively). However, the most common sites of involvement in the NHL were liver and bone marrow (12.90%), followed by the spleen and stomach (9.67%). BCL-2 and BCL-6 were the most frequently positive markers in NHL, especially in DLBCL. Moreover, it was found that DLBCL had a more aggressive course and associated with more deaths (5/26; 19.2%, P= 0.047). Triple hit lymphoma was only found in follicular lymphoma patients with overall frequency of 1.7%. CONCLUSIONS: Our study shows that in Al-Ahsa area, HL is more prevalent in pediatric patients. Moreover, there is high frequency of DLBCL among NHL subtypes as compared to the western world.
  234 46 -
CASE REPORTS
Helicobacter pylori infection presenting as a hypereosinophilic syndrome and secondary immune thrombocytopenia
Vishal Mangal, Jayraj Hasvi, Ankit Kumar
July-September 2020, 11(3):141-144
DOI:10.4103/joah.joah_44_20  
Eosinophilia is seen in patients with parasitic infections, various inflammatory and allergic diseases, as well as hematologic malignancies and autoimmune conditions. The bacterial infections as a cause of hypereosinophilia (HE) are rare. In the following article, we report a case of HE with rare etiology. Sixty-six-year-old male, presented with symptomatic thrombocytopenia and pain abdomen of 6 months duration. The evaluation revealed HE on the peripheral blood smear, and bone marrow studies, without atypical cells. During workup for complications, eosinophilic duodenitis was present with a positive rapid urease test, without the involvement of other systems. Etiological workup was negative for other secondary causes of hypereosinophilic syndrome (HES) and immune thrombocytopenia (ITP). The patient responded to anti-Helicobacter pylori treatment, with clinical and hematological improvement. Hence, the final diagnosis of H. pylori-associated HES and secondary ITP was made. The clinicians should bear in mind that H. pylori is an established cause of secondary ITP. However, it has never been reported to cause HES. Anti H. pylori treatment can reverse all the changes without the need for corticosteroids and other therapies. Hence, in an Indian setting, it should always be considered.
  219 45 -
Mendelian susceptibility to mycobacterial disease masquerading as lymphoproliferative disorder
Thulasi Raman Ramalingam, Deenadayalan Munirathnam
July-September 2020, 11(3):145-148
DOI:10.4103/joah.joah_45_20  
Mendelian susceptibility to mycobacterial diseases (MSMDs) is a rare disorder where histiocytes lack the interferon-gamma receptor and are not activated by the cytokine secreted by T-lymphocyte. The lymph node biopsy in these cases lack granuloma but show sheets of histiocytes with effacement of architecture, which may mimic a lymphoproliferative disorder. The predominance of a histiocytic population in immunodeficient children should alert the pathologist, and ancillary techniques such as immunohistochemistry and flow cytometry should be used to establish the correct diagnosis. Here, we report a case of MSMD which mimicked as a lymphoproliferative disorder.
  160 26 -
BRIEF REPORTS
Conserved pathways of apoptosis in leukemia: A short communication
Pushpam Kumar Sinha
July-September 2020, 11(3):153-156
DOI:10.4103/joah.joah_57_20  
The stem cell nature of leukemia and several other cancers has long been known now. Given that the leukemic blast cells (the large population of aberrantly differentiated blood cancer cells) arise from a rare and quiet population of stem cells called leukemic stem cells (LSCs) which have accumulated multiple mutations in multiple steps spread over the years, the particular hypothesis that cancer results from the loss-of-function mutation in apoptotic gene of the apoptotic pathway would mean that the LSCs and the leukemic blast cells do not undergo apoptosis at all. However, this is not the case; in reality, there are experimental and/or clinical studies showing that the LSCs and the leukemic blast cells do undergo apoptosis in a fully grown cancer, though its rate is less than the proliferation rate. I hypothesize in this article that this apoptosis by itself is significant and its importance cannot be ruled out, though it may not be significant when compared with the apoptosis of blood cells in a healthy person. This means that though leukemia arises through multiple mutations which may include mutations in apoptotic genes too, there are left some conserved pathways of apoptosis in fully grown cancer. A few of these possible conserved pathways of apoptosis in a fully developed leukemia, that I list here, include P53, pro-apoptotic Bcl-2 family members, microRNA, and short interfering RNA.
  153 23 -
Impact of delayed diagnosis of multiple myeloma
Assem Elghazaly, Abdulrhman AlSwayyan, Hassan AlGreshah
July-September 2020, 11(3):149-152
DOI:10.4103/joah.joah_90_19  
BACKGROUND: Multiple myeloma (MM) is a malignant neoplasm of plasma cells. It constitutes about 1% of the entire human malignancies. The disease affects multiple body systems/organs including the kidneys, bone, hematopoiesis, and immune system. Delay in diagnosis, with a negative impact on patients' outcome particularly those with emergency presentation, had been reported. No local publication had addressed this issue. The aim of this work is to study the local practice, specifically the time from initial symptoms to the diagnosis of MM. METHODS: This is a medical record-based study from a central hospital, Saudi Arabia. The study included all newly diagnosed patients with MM from June 2016 to January 2019. RESULTS: A total of 22 patients were studied, of them 21 presented to our hospital emergency room with nonspecific symptoms, before the diagnosis was made for the first time. All the patients had prior visits to other clinics/centers without a definitive diagnosis reached. Back pain was the most common initial symptom. We demonstrated more frequent disease-related complications, particularly end-stage renal disease requiring hemodialysis (27%) at the time of diagnosis than that mentioned in other studies. The median time from initial symptoms to diagnosis was 204 days, which is longer than what had been shown in previous reports. CONCLUSIONS: Delayed diagnosis of MM, with its negative impact on patients' outcome, is a challenge. In our center experience, most patients had significate disease-related complications at the time of diagnosis. Raising the awareness about red flags of back/bone pain as well as having an effective referral pathway is suggested.
  140 29 -
IMAGE IN HEMATOLOGY
An unusual finding in peripheral blood: Visceral leishmaniasis
Miguel Aliste-Fernandez, Paula San-José, Luz Muñoz Marín, Granada Perea Durán
July-September 2020, 11(3):157-158
DOI:10.4103/joah.joah_86_19  
  129 40 -
OBITUARY
Death anniversary of late professor (Dr.) Francesco Lo-Coco: Doyen of acute promyelocytic leukemia (1955–2019)
Anil Kumar Yadav
July-September 2020, 11(3):159-159
DOI:10.4103/joah.joah_136_20  
  126 38 -
CASE REPORTS
Immune thrombocytopenic purpura in a child with mucopolysaccharidoses
Nikhil Rajvanshi, Manish Kumar
July-September 2020, 11(3):135-136
DOI:10.4103/joah.joah_26_20  
Hematological manifestations in mucopolysaccharidoses (MPS) are relatively rare. We report a rare presentation of immune thrombocytopenic purpura with recurrent mucosal bleeds in a 5-year-old boy with MPS.
  129 24 -
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