Diagnosis and investigation in haematology

Author(s):  
Chris Bunch

This chapter addresses the interpretation of the full blood count, blood film, bone marrow examination, and related tests in the diagnosis of haematological disorders. Examination of a stained blood film, which should always be requested if a blood count abnormality cannot readily be explained by the clinical context, may give clues to the cause of the abnormality or prove diagnostic. Examination of the bone marrow is essential to the proper evaluation and diagnosis of many haematological disorders. The simplest form of marrow examination involves needle aspiration of marrow cells from the posterior iliac crest; smears are made and stained in the same way as a blood film. Bone marrow can also be biopsied for histological examination, at the same time as marrow aspiration.

2020 ◽  
pp. 5169-5171
Author(s):  
Chris Hatton

Haematology is the study of the composition, function, and diseases of the blood. The approach to a patient suspected of having a haematological disorder begins with taking a history (particularly noting fatigue, weight loss, fever, and history of bleeding) and performing a clinical examination (looking for signs of anaemia, infection, bleeding, and signs of cellular infiltration causing splenomegaly and/or lymphadenopathy). Key investigations include a full blood count, a blood film, and (in selected cases) examination of the bone marrow. Further diagnostic tests now routinely performed on blood and marrow samples include immunophenotyping and cytogenetic and molecular analysis. Mutational signatures may be diagnostically useful and potentially define treatment, keeping haematology in the vanguard of advances in modern medicine.


Author(s):  
G. K. Eke ◽  
K. I. Korubo

Introduction: Acute leukaemias are the most common malignant neoplasms in childhood, presenting with a variety of nonspecific symptoms. Though many of the recent more sophisticated methods of diagnosis have important prognostic implications, they are often not available in low- and middle-income countries. Objective: To review the full blood count and bone marrow aspirations at presentation in children diagnosed with acute leukaemias at a teaching hospital in southern Nigeria. Methodology: A retrospective survey of children with acute leukaemias admitted into the Paediatric Oncology unit of the University of Port Harcourt Teaching Hospital (UPTH), from January 2014 to December 2020. Their clinical profile, full blood count and bone marrow aspirations were analyzed using SPSS version 25.0 Results: Forty-three children aged 8 months to 17 years, with a median age of 9 years, were diagnosed with acute leukaemia within the period under review, 28 (65.1%) were males and 15 (34.9%) females, giving a M:F ratio of 1.9:1. Commonest clinical features at presentation were fever (n=28, 65.1%), pallor (n=18, 41.9%) and gum bleeding (n=16, 37.2%); while 38 (88.4%) of them presented with anaemia, 20 (46.5%) had leukocytosis and 36 (83.7%) had thrombocytopoenia with a median platelet count of 42x109/L and circulating blasts were present in the peripheral blood film of most of the patients. Acute lymphoblastic leukaemia (ALL) was the diagnosis in 30 (70%) children, and AML in 9 (21%). The bone marrow was hypercellular in 30 cases (69.8%) and erythropoiesis was depressed in 39 (90.7%) children. Conclusion: At the UPTH, children with acute leukaemias were mostly males. Fever, pallor and gum bleeding were the commonest symptoms with most of them having circulating blasts. Acute lymphoblastic leukaemia was the commonest type and bone marrow was mainly hypercellular with depressed erythropoiesis.


1969 ◽  
Vol 4 (2) ◽  
pp. 560-566
Author(s):  
ZARD ALI KHAN ◽  
MOHAMMAD SAJJAD ◽  
IMRAN UD DIN ◽  
MUKAMIL SHAH ◽  
SHAH JEHAN

BACKGROUND: Visceral Leishmaniasis is a chronic disease and was first described in 1903, byLIESHMAN and DONOVAN. The disease is common in tropical and sub tropical areas of the worldwith various hematological manifestations. It is characterized by fever, visceromegaly, weight loss,pancytopenia and hypergammaglobulenemia. The disease is silent killer, invariably killing almost alluntreated patients, but curable with hematological improvement within 4-6 weeks of treatment.OBJECTIVE: To determine the frequency of Visceral Leishmaniasis in patints with cytopenias .MATERIAL AND METHODS: A descriptive study conducted in Pathology department, HayatabadMedical Complex, Hayatabad from September 1, 2012 to August 31, 2013. This study comprises of 126patients, subjected to complete blood counts. Diagnosis were confirmed by finding Amastigote( L/Dbody) from bonemarrow aspirate. All the patients who were referred to pathology Department of thehospital for bone marrow examination, with the results of peripheral blood using automatedHaematology analyzer, Sysmex KX 21 showing cytopenia were included in the study. Consent wastaken from the patient for bone-marrow aspiration procedure. After consent detailed history, physicalexamination was done.Laboratory investigations i.e. full blood count, which includes hemoglobin estimation, white blood cell,red blood, and platelet count.Bone marrow cytology (Giemsa stain) was recorded on the designed profroma.Posterior superior iliac spine (PSIS) was used as the site for aspiration in adults and children over 2years of ageRESULT: Descriptive case series study of 126 patients of peripheral cytopenia. In which 77 (61.1%)patients were males and 49 (38.9%) were female with male to female ratio of 1.57: 1 It was also foundin this study that visceral leishmaniasis was present in 29 (23%) of cases and the male: female were 1.6:1. Result of the automated hematology analyzer of peripheral cytopenic patients in visceralleishmaniasis show that all of the patients were having total leukocyte count less than 4000/cmm(100%). The hemoglobin level wass less than lOgm/dl in 26 cases (87.7%) and more than lOgm/dl inthree cases (10.3%). In case of platelets count, 27 cases (93.1%) were having platelets count less than150000/cmm.CONCLUSION: Incidence of visceral leishmaniasis is highier in children age group 1-10 years, alsomales are more prone than females. Leukopenia is recorded in all (100%) of the cases, followed bythrombocytopenia (93.1%) and anemia (Hb <10gm %) 87.7% cases.KEY WORD: Visceral Leishmaniasis, Kala Azar, Amastigote (L/D body)


2020 ◽  
pp. 5181-5188
Author(s):  
Wendy N. Erber

The diagnosis of haematological malignancies requires an understanding of the diseases and the uses and limitations of the range of available investigations. The relative importance of different investigations varies by disease entity. The blood count is one of the most widely used tests in all of medicine and often the first indication of an underlying haematological malignancy. Some blood count features are ‘diagnostic’ and others may give an indication of a bone marrow defect. Morphological assessment of a stained blood film adds value to an abnormal blood count. It may identify abnormal morphology of red cells, leucocytes, or platelets which may be specific and diagnostic, or give clues suggesting a diagnosis. Bone marrow aspirate (liquid sample) gives cytological detail, and trephine biopsy provides information about marrow cellularity, architecture, cellular distribution, and extent of fibrosis. Immunophenotyping detects cellular antigens in clinical samples and is essential in the diagnosis and classification of haematological malignancies. It is also used for disease staging and monitoring, to detect surrogate markers of genetic aberrations, identify potential immunotherapeutic targets, and to aid prognostic prediction. Cytogenetics assesses the number and structure of whole chromosomes and chromosomal regions in neoplastic cells and is performed to diagnose and classify some haematological malignancies. Molecular genetic methods facilitate the detection of mutations, rearrangements, or translocations in genes. Applications in malignant haematology include confirming clonality, detecting disease-associated genotypes, determining prognosis, disease monitoring following therapy, predicting imminent clinical relapse, and identifying patients who are likely (or not) to respond to new targeted inhibitor therapies.


2019 ◽  
Vol 12 (3) ◽  
pp. e227821
Author(s):  
Adele Beck ◽  
Hannah Hunter ◽  
Simon Jackson ◽  
David Sheridan

A 17-year-old man with no significant past medical history presented with a 2-week history of worsening jaundice, lethargy, anorexia and progressive right upper quadrant abdominal pain. There were no stigmata of chronic liver disease. Initial investigations were suggestive of cholangitis with large intrahepatic and extrahepatic bile duct strictures but otherwise normal hepatic and splenic appearances. A percutaneous transhepatic cholangiogram with the positioning of drains was performed to alleviate the obstructive jaundice. Within 2 weeks of the first presentation, full blood count revealed a significantly raised white blood count and a subsequent peripheral blood smear and bone marrow were consistent with a diagnosis of acute myeloid leukaemia. Chemotherapy was started after partial improvement of his obstructive jaundice. Complete morphological and cytogenetic remission was obtained 4 weeks after the first cycle of chemotherapy (half dose of daunorubicin and full dose of cytarabine, treated off trial) on control bone marrow. The patient remains in remission.


Blood ◽  
2013 ◽  
Vol 122 (21) ◽  
pp. 5174-5174 ◽  
Author(s):  
Kaladada I. Korubo ◽  
Hannah Emmanuel Omunakwe ◽  
Chijioke A. Nwauche

Abstract Background Chronic Myeloid Leukaemia (CML) is one of the commonly diagnosed leukaemias and has been extensively studied, making it the first malignancy to have a constant identified mutation present which is relevant for diagnosis. CML is also a model for targeted therapy in the treatment of cancer. Before the development of molecular techniques in diagnosis of CML, the clinical and laboratory parameters which included spleen size, total white blood cell (WBC) count, peripheral and bone marrow smears were essential in making a diagnosis of CML. In a developing country with less availability of molecular techniques of diagnosis, these parameters are still invaluable. Here we present an eight year retrospective study of patients who were diagnosed with CML in our center, which is a tertiary referral center in the Niger-Delta zone of Nigeria. Methods We carried out a retrospective study of all CML cases who presented to the department of hematology at the University of Port Harcourt Teaching Hospital, Nigeria, from the year July 2004 – June 2012. Data were extracted from patients' records and included age, sex, absence/presence & duration of symptoms, full blood count and presence of Philadelphia chromosome. Other investigations done were erythrocyte sedimentation rate, uric acid, renal and liver function tests. Diagnosis of CML was made based on clinical features, full blood count, bone marrow aspirate and karyotyping for Philadelphia chromosome where available. The data generated from the above information were analyzed with SPSS statistical package software with results expressed in statistical tables. Results A total of 105 haematological malignancies were seen between July 2004 and June 2012 of which 34 (32.4%) were CML. The mean age of presentation was 32.4 ± 16.2 years (range 19 - 75 years, median 36.5 years). There were 18 males and 16 females. The males had a lower mean age than the females (37.3 vs. 40.4 years) but this was not statistically significant (p=0.59), however the median age of males and females were the same (36 vs. 36.5 years). Males were only slightly more affected than females (male, female ratio 1.1 : 1). No patient was asymptomatic at presentation. The commonest presenting clinical features were splenomegaly (91.2%), anemia (61.8%), fever (50%) and weight loss (50%). One patient had undergone a splenectomy. Seven (20.6%) presented as incidental findings while being investigated for other reasons due to development of complications such as renal failure, hearing loss, priapism, and had a higher mean WBC of 535.7 X 109/L. All the patients presented with leucocytosis (mean 287 X 109/L, range 72-1343 X 109/L). There was no case of thrombocytopenia, but nine (26.5%) had thrombocytosis with a mean platelet count of 639.1 X 109/L. Nineteen (55.9%) had a raised ESR. Bone marrow aspirate findings of all patients typically showed increased cellularity and marked myeloid hyperplasia. Of the total 34 CML patients, 3(8.8%) presented in the accelerated phase and only 1(2.9%) in the blastic phase, majority presented in the chronic phase. Karyotyping for Philadelphia chromosome was done for 12(35.3%) and was positive in all cases. Conclusion CML represented about a third of the haematological cancers seen at our center. Our median age of presentation is lower than Caucasian values (32.4 vs ∼60 years) as reported by other African literature. The males presented at an earlier age than the women although this was not statistically significant. The clinical and laboratory parameters are comparable to international studies, though our patients had very high WBC count at presentation. We did not have any asymptomatic patient. This may be attributed to lack of awareness on the importance of routine medical checkup and evaluation in low resource countries. However, a larger multi-center study is required to corroborate these findings. Disclosures: No relevant conflicts of interest to declare.


2017 ◽  
Vol 47 (3) ◽  
pp. 363-367 ◽  
Author(s):  
Ömer Kasalak ◽  
Andor W. J. M. Glaudemans ◽  
Jelle Overbosch ◽  
Paul C. Jutte ◽  
Thomas C. Kwee

2020 ◽  
Vol 48 ◽  
Author(s):  
Juliana Das Chagas Goulart ◽  
Felipe Jacques Sanches ◽  
Natalie Bertelis Merlini ◽  
Barbara Cristina Mazzucatto ◽  
Beatriz Gasser ◽  
...  

Background: Histiocytic sarcoma can present in a localized or disseminated form, being a malignant neoplasm derived from interstitial dendritic cells. Another form of the disease is called hemophagocytic histiocystic sarcoma (HHS), which originates from macrophages located in the splenic red pulp and bone marrow. HHS is a rare neoplasm with unknown etiology and rapid development. It mainly affects middle-aged to elderly animals. It primarily affects the spleen and bone marrow, with occurence of metastases in other organs. Some canine breeds are considered more predisposed to this neoplasia, among them the Rottweiler. The aim of this study was to report a case of HHS in a Rottweiler dog.Case: An 8-year-old Rottweiler suffering from hyporexia and progressive weight loss for a month was attended at the Veterinary Hospital of State University of Maringá. On physical examination, he only presented mild discomfort on abdominal palpation. Blood count was performed, which revealed mild thrombocytopenia (145,000/µL, reference value for the species 150,000-500,000/µL). The Polymerase Chain Reaction (PCR) exam was requested for babesiosis and ehrlichiosis, due to a history of ectoparasites. The animal was released with the prescription of Doxycycline at a dose of 10 mg/kg orally for 28 days. After 5 days, the condition worsened and the animal returned with emesis, apathy and hyporexia, being hospitalized. Abdominal ultrasound, blood count, urinalysis, serum urea and creatinine tests were requested. Among the hematological changes, thrombocytopenia (116,000/µL) and the appearing of regenerative anemia and atypical round cells with ample and slightly basophilic cytoplasm in the smear, similar to histiocytes, stood out. On ultrasound examination, splenomegaly was observed with hypoechogenic areas. Ultrasound-guided fine-needle aspiration cytology (FNAC) of the spleen was performed, which revealed the presence of abundant cellularity consisting of round cells arranged individually and in small groups, with variable nucleus / cytoplasm ratio, slightly basophilic cytoplasm and, sometimes, vacuolized. Eccentric nucleus with chromatin ranging from loose to dense, with evident and often multiple nucleus. In addition, a large number of multinucleated giant cells, mitosis figures (sometimes atypical) and intense anisocytosis and anisocariosis were observed. Furthermore, it was possible to observe erythrophagocytic activity, alterations compatible with histiocytic sarcoma (HS). After 10 days of the first visit, the animal died. At necropsy, samples from altered areas of the spleen, lungs and lymph nodes were collected and sent for histopathological and immunohistochemical examination, in which the diagnosis of hemophagic histiocytic sarcoma was confirmed, in addition to lungs and lymph node metastasis.Discussion: The prognosis of HHS is the worst among histiocytic disorders, as it is associated with coagulopathies and severe anemia due to erythrophagocytic activity, as occurred in the case presented, with a maximum survival time between one to two months. The described animal died ten days after showing the first clinical signs. The immunohistochemistry technique using HLA-DR, CD18, CD163, and CD11d markers was essential to confirm the cell line. Positivity for CD11d marker was found, which allowed to classify the neoplasm as hemophagocytic HS. This report exposes the importance of cytological examination for screening and histopathological and immunohistochemical tests to confirm the diagnosis of this extremely aggressive neoplasm.


Author(s):  
Dr. Atul C. Mujumdar ◽  
Dr. Akash C Chhabra

Introduction: There are various disorders in formation of blood in body. Bone marrow is one of them which involved variety of hematological and nonhematological disorders. Hematological disorders include myeloproliferative neoplasm (MPN), acute leukemia, hemato-lymphoid neoplasm and nutritional deficiency diseases whereas nonhematological disorders include infectious diseases infiltrating the bone marrow such as parasitic infections, tuberculosis and metastatic deposits. Bone marrows present various diseases with various clinical symptoms with the involvement of blood but peripheral blood picture alone does not reflect the nature of disease process. Depending upon the suspected diagnosis from clinical features and peripheral blood examination, that indication for bone marrow examination can be done. Examination of Bone marrow is useful in the diagnosis of both hematological and non-hematological disorders. The most important techniques used for the diagnosis of hematological disorders are trephine biopsy and bone marrow aspiration. For the interpretation of the disorder of bone marrow history, clinical finding, peripheral blood picture and other laboratory findings are required. Usually Bone marrow aspiration (BMA) alone is sufficient for the diagnosis of nutritional anaemias, most of the acute leukaemias and Immune thrombocytopenias. Diagnosis such as Trephine biopsy provides important diagnostic information myelofibrosis, granulomatous disease and bone marrow infiltration. Bone marrow aspiration is useful in making out better individual cell morphology whereas biopsy is useful in bone marrow architectural pattern and distribution. Bone marrow is nor mocellular or hypercellula resulting from ineffective hematopoiesis, increased peripheral destruction and bone marrow invasion. Therefore, bone marrow examination is extremely helpful to identify the cause of pancytopenia. Aim: The main aim of this study is to evaluate the cytological and histological pattern of various hematological disorders in bone marrow aspiration and trephine biopsy respectively. Material and Methods: During the period of 1 year 100 patient with the cases of haematological disorders were included in this study. Routinely stain like Leishman stain is used for bone marrow aspiration. Haematoxylin and eosin stain is also used for trephine biopsy. For all the cases reticulocyte count, peripheral smears, sickling test and complete hemogram were done. Special stains PAS Stain (Periodic acid schiff) was done for all ALL, AML and gauchers disease. In ALL cases Block positivity is shown. In gauchers disease, a gaucher cell shows wrinkled tissue paper appearance with PAS positivity. Reticulin stain was done in myelofibrosis and metastatic deposits. In myelofibrosis, trephine biopsy shows increase in reticulin network with coarse fibrils. Result: In all the cases bone marrow aspiration was done and among them 40 cases trephine biopsy were done. Out of total patients 57 were male and 43 were female.  And the mean age was found as 32.6 years. The findings of the bone marrow were examination. At the time of study period 50% of the study have anemias and they are predominantly megaloblastic followed by aplastic/ hypoplastic anemias. Other three cases include two metastatic deposits and one storage disorder (Gaucher’s Disease). Conclusion: Bone marrow examination is important to diagnosis, prognosis or evaluate therapeutic response for a variety of hematologic and non-hematologic problems. Nowadays, Bone marrow aspiration & bone marrow biopsy are used routinely as diagnostic procedures because it is easier and does not require advance equipments. Therefore both the procedures are complementary to each other which are helpful in further investigation and management. Keywords: Bone marrow aspiration, Trephine biopsy, Pancytopenia, Megaloblastic Anemia


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