Bombay Blood Group Phenotype Misdiagnosed As O Phenotype: A Case Report.

Bombay blood group is a rare type that was initially identified in the city of Bombay, India. It is characterized by the presence of serum antibodies anti-A, anti-B, and anti-H, which can cause agglutination in all blood groups within the ABO system. The clinical importance of the Bombay blood group lies in its inability to receive transfusions from other blood groups. In this case report, we present a case of a young male who was initially misdiagnosed as having an O phenotype, resulting in a hemolytic transfusion reaction. This case highlights the diagnostic and therapeutic challenges associated with rare blood phenotypes.

A Bizarre Progression Of Chronic Lymphocytic Leukaemia Into Diffuse Large B-Cell Lymphoma.

A 65-year-old male presented with complaints of weakness, lethargy, abdominal pain, and low-grade fever for the last few months. His examination revealed generalized lymphadenopathy and splenomegaly. A subsequent laboratory workup revealed atypical lymphoid cells with prominent double-bright positivity of CD19 and CD5 markers. Further investigations revealed deletion of the ATM (11q22.3) gene, and by other diagnostic factors, the patient was diagnosed with B-cell chronic lymphocytic leukaemia. Thus, treatment was initiated with oral chemotherapy followed by rituximab-bendamustine. After three weeks, he presented to the emergency room with a fever and worsening abdominal pain. On examination, massive splenomegaly was found. After stabilization, a bone marrow biopsy revealed findings which, in light of the clinical symptoms, were consistent with Richter's transformation of B-Cell chronic lymphocytic leukaemia into Diffuse large B-Cell Lymphoma.

Niemann-Pick Disease on Bone Marrow Trephine: A Rare Manifestation.

Niemann-Pick disease has an autosomal recessive inheritance pattern and occurs due to a deficiency of a lysosomal enzyme, sphingomyelinase. It causes variable clinical signs and symptoms such as hepatosplenomegaly, delayed milestones, and peripheral cytopenia due to bone marrow involvement. Here, we report a case of a child who presented with hepatosplenomegaly and pancytopenia, who was later found to have Niemann-Pick disease on bone marrow examination. This case highlights the case presentations of this rare disease and the importance of bone marrow trephine in prompt diagnosis and management of a patient.

Seroprevalence of Hepatitis B, Hepatitis C, Human Immunodeficiency Virus, syphilis, and malaria among blood donors at tertiary care hospital blood bank.

OBJECTIVE: To ascertain the frequency of markers of transfusion-transmitted infections among blood donors in a tertiary care setting. METHODS: The retrospective cross-sectional descriptive study, was conducted in the Blood Bank section of the Department of Pathology at the Dow University of Health Sciences, Karachi, and comprised data of blood donors from January 2013, to October 2018. All blood donors had been screened for hepatitis B, hepatitis C, human immunodeficiency virus I and II, syphilis through electrochemiluminescence and malaria using immunochromatography. Data was analyzed using SPSS 21. RESULTS: Of the 29,732 donors, 29,712(99.93%) were males and 20(0.06%) were females; 12(0.04%) were volunteers and 29,720(99.95%) were exchange donors. Overall, 2587(8.7%) donors were positive for an infectious disease; 908(3%) hepatitis C virus, 887(2.9%) hepatitis B, 620(2%) syphilis, 168(0.5%) human immunodeficiency virus and 4(0.02%) malaria. CONCLUSIONS: Hepatitis C and B were the most frequent infections, followed by syphilis in the sample.

Disseminated Fungal Infection On Bone Marrow Trephine In An Asplenic Patient.

hyposplenism increases the risk of life-threatening infection with encapsulated bacteria. however, literature review revealed that hyposplenism is also a risk factor for disseminated fungal infection. here, we report a case of individual who presented with pyrexia of unknown origin and had splenectomy for hemolytic anemia and later he found to have disseminated fungal infection on bone marrow examination. this case emphasized the likelihood of disseminated fungal infection in an asplenic patient and also importance of bone marrow trephine in prompt diagnosis and management of patient.

Frequency Of TP53 Gene Mutation In Patients With Chronic Lymphocytic Leukaemia.

BACKGROUND: Chronic lymphocytic leukaemia (CLL), an indolent but malignant lymphoproliferative disorder, is characterized by unregulated and uninhibited growth of mature monoclonal lymphocytes, with deletion of 17p containing TP53 gene being the most important prognostic factor. TP53 mutations, reported in 10% of CLL cases, seem to have a direct correlation to a more advanced stage and aggressive transformation of CLL. METHODS: This was a retrospective cross-sectional descriptive study limited to a period from 1st June 2013 to 30th June 2016, conducted at Section of haematology, Department of Pathology and Laboratory Medicine, Aga Khan University Hospital, Karachi. One thirty-nine cases of CLL received for TP53 mutation analysis at the Aga Khan University hospital clinical Laboratory were included in the study. Five ml of whole blood or one ml of bone marrow aspirate sample in EDTA tube was collected for the detection of TP53 mutation by the FISH technique. Statistical package for social sciences 21 was used for data entry and analysis. RESULTS: Of the 139 chronic lymphocytic leukaemia patients, 43 (31%) were females and 96 (69%) were males. The mean age of all patients was 56.3±10.84 years. Tp53 gene mutation in patients with chronic lymphocytic leukaemia was found only in 19(13.7%) patients. Among these patients 15 (10.9%) were male and 04(2.9%) were females. Age and gender were not statistically significant with Tp53 mutation with a p-value > 0.05 at a 95% confidence interval. CONCLUSIONS: In a cohort of Pakistani patients with Chronic lymphocytic leukaemia, TP53 gene mutation was found in 19 (13.7%).

Precursor Lymphoblastic Lymphoma in the Extramedullary Tissue: A Rare Manifestation of Chronic Myeloid Leukemia in Blast Crisis.

Chronic myeloid leukemia (CML) is a myeloproliferative disorder characterized by immature granulocytes in peripheral blood and bone marrow. In 95% of cases, it is always due to the presence of Philadelphia chromosome characterized by the presence of reciprocal translocation between chromosome 9 and 22. However, in 7% -17% of individuals, extramedullary proliferation also occurs, either in skin, lymph nodes, bone or central nervous system (CNS), which could be either myeloid, lymphoid or mixed progenitor in origin. The present case is of a 23-year-old male who presented with lower limb weakness, bowel and urinary incontinence. His complete blood count (CBC) findings showed a raised white blood count (WBC) of 408 X 10E9/L. Peripheral film, bone marrow biopsy and immunohistochemistry showed findings consistent with CML in chronic phase. Bone marrow cytogenetic revealed the presence of Philadelphia chromosome. Simultaneously, magnetic resonance imaging (MRI) was done which revealed extradural mass at L1-L3 level; histopathological and immunohistochemistry findings showed features compatible with precursor B cell lymphoblastic lymphoma. His cerebrospinal fluid (CSF) cytology revealed similar blast cells. This extramedullary presence of lymphoid blast cells in the CNS put the patient in the rare entity of CML in blast crisis. He was started on tablet nilotinib and also received multiple cycles of intrathecal chemotherapy with cytosar, methotrexate and hydrocortisone. He also underwent radiotherapy of extradural mass. His lower limb weakness improved dramatically. However, after receiving the fourth cycle of intrathecal therapy, the patient died consequent to neutropenic sepsis. Extramedullary blast crisis in CML has a poor prognosis. Any patient with CML, presenting with CNS symptoms or lymph node enlargement should be thoroughly investigated for extramedullary blast crisis, as there is a considerable change in management and prognosis from the prototype CML in chronic phase.

Tuberculous Granuloma On Bone Marrow Trephine.

Bone marrow examination is a useful tool for diagnosis of many diseases. The utility of bone marrow examination in workup of pyrexia of unknown origin cannot be undermined. Bone trephine of patients presenting with pyrexia of unknown origin must be carefully looked upon for granulomas for evaluation of tuberculosis. In this case, bone marrow trephine aided in timely diagnosis of tuberculosis in a patient.

Cerebral Venous Sinus Thrombosis in a Patient with Undiagnosed Factor VII Deficiency.

Factor VII (FVII) deficiency is one of the rare inherited bleeding disorders. Thrombosis has been occasionally described in inherited FVII deficiency. Here, we report a young female with undiagnosed FVII deficiency who presented with cerebral venous sinus thrombosis (CVST). Oral contraceptive pill was found to be prothrombotic risk factor. The CVSToccurred in spite of the congenital FVII deficiency indicating that no definitive antithrombotic protection is assured by this defect. Low molecular weight heparin and anti-Xa assay were found to be safe choice of anticoagulation and monitoring, respectively, in this patient.