Benign hematological diseases of the type anemias, hemophilias and autoimmune thrombocytopenias it shows a long evolution and requires follow-up in the dynamics of the patient.
Oncohematological disordersas I am leukemias, lymphomas, myeloproliferative syndromes and myelodysplasiasstart suddenly and can associate a fulminant evolution, unfavorable in the absence of specific treatment.
Among the hematological malignancies, acute leukemia associated with the most severe prognosis. At the European level, the incidence of this condition is 5-8 new cases per 100,000 inhabitants. At the level of our country, it is estimated that in 2020, approximately 1,900 new cases of leukemia were diagnosed. The mortality associated with the pathology is between 54 and 85%, these percentages far exceeding the European average and the one recorded in the United States of America.
The data provided by GLOBOCAN attests to the fact that the incidence of non-Hodgkin’s lymphomas in the general population of our country is approximately 30 cases per 100,000 inhabitants, in 2020 being reported 1,909 new cases with 789 deaths.
The Romanian Society of Hematology started a national register on the incidence of multiple myeloma starting in 2019 in which 500 new cases were mentioned from 7 university centers in the country, but at the moment it is considered that this pathology is much underdiagnosed, being it is possible that the reported number is not in accordance with the current situation.
content
In what situations is hematology consultation recommended?
As a rule, the hematological consultation is requested by the patient on the recommendation of the family doctor following an anamnesis and a clinical examination that highlights a series of manifestations and symptoms suggestive of a blood disease.
There are also situations in which routine paraclinical laboratory investigations highlight the appearance of more or less specific changes that raise the suspicion of a blood disease and refer the patient to the hematologist’s office.
Genetic causes in hematological disorders
Mutations that occur at the level of genetic material, chromosomal translocations, deletions or additions of genetic material represent some of the pathological mechanisms that can be responsible for the appearance of certain hematological pathologies.
Chronic myeloid leukemia CML and acute lymphoblastic leukemia ALL met at child and certain cases of acute myeloblastic leukemia LAM are characterized by the presence of a chromosomal translocation t(9,22) (q34;q11) known as the Philadelphia chromosome. Polycythemia vera is caused by a mutation in the JAK2 gene involved in the regulation of cell growth and division that generates blood hyperviscosity and favors the risk of thrombotic accidents.
Anemia associated with thalassemia appears as a result of a mutation in the gene responsible for the synthesis of α globin (for type A hemophilia) or β globin (for type B hemophilia) which affects the body’s ability to synthesize normal hemoglobin (the structural protein from the red blood cells that ensures the transport of oxygen in the body).
Common symptoms in hematological diseases
Some of the main manifestations that can be encountered in the evolution of a blood disease are:
- Fatigue
- Marked physical asthenia
- Pallor of the skin
- headaches
- Hemorrhagic syndromes (recurrent nosebleeds, gum bleeding, petechiae)
- Unintentional weight loss
- Adenopathy (enlarged lymph nodes).
- Low fever (37-38°C), profuse night sweats especially on the head, frequent infections with potentially pathogenic or opportunistic germs and recurrent thrombotic accidents in young people are other manifestations that may indicate the existence of an evolving hematological disease.
Analysis and diagnosis of hematological diseases
Blood diseases are diagnosed by the hematologist with the help of the information obtained from the anamnesis, the clinical examination and the investigations recommended in accordance with the particularities of each individual case.
The complete blood count with the leukocyte formula and the peripheral blood smear examination are laboratory investigations routinely requested by patients with blood diseases, along with which the following can be performed:
- Spinal puncture or osteomedullary biopsy for examining the cellularity of the hematogenous marrow
- Lymph node biopsy to establish the diagnosis of lymphoma
- Laboratory tests which include
- ESR erythrocyte sedimentation rate
- Coagulograma
- Serum protein electrophoresis
- Determination of coagulation factors
- Plasma proteins C and S
- Plasminogen activity
- The inhibitory activity of plasminogen activators
- Baseline profile for thrombophilia
- Cytochemistry non-specific esterases
- Citochemistry PAS
- Cytochemistry of peroxidase
- Leukocyte alkaline phosphatase
- Medullary hemosiderin
- Flow cytometry for immunophenotyping of acute leukemias.
- Karyotype analysis and cytogenetic study by FISH for the evaluation of abnormalities present in patients with leukemia
- Imaging investigations for the evaluation of patients with oncohematological diseases – ultrasound, computed tomography, nuclear magnetic resonance.
Appointment form
Anemia
Anemias represent hematological pathologies characterized by a decrease in hemoglobin values and can be of nutritional, hormonal, genetic or post-medication cause. From the point of view of the physiopathological mechanisms that determine the appearance of this disease, anemias can be caused by:
- Decrease in erythrocyte synthesis as a result of: dietary deficiency of iron, folic acid, vitamin B12 and vitamin C, reducing the number of marrow erythroblasts in the case of aplastic anemia or marrow infiltrates. Endocrine pathologies, exposure to ionizing radiation and certain drug treatments are other causes that can affect the synthesis of erythrocytes with the appearance of anemic syndromes. Learn more about iron deficiency anemia in children and iron deficiency
- Increased erythrocyte turnover – spherocytosis, acanthocytosis, immunological and non-immunological extracorpuscular anemias. Blood loss as a result of surgery, gynecological or digestive tract pathologies.
- The increase in the body’s needs during pregnancy.
From a clinical point of view, anemias can be manifested by severe fatigue, low tolerance to effort, skin pallor, dizziness, headache and heart rhythm disorders. These manifestations vary in intensity inversely proportional to the hemoglobin at the erythrocyte level.
Thalassemia
Thalassemia is an autosomal recessive genetic disease (inherited from parents) characterized by inadequate synthesis of α or β hemoglobin.
- Alpha thalassemias are caused by deletions in the α globin genes
- β thalassemias are the consequence of a point mutation of chromosome 11.
The classification of this pathology usually refers either to the type of affected hemoglobin alpha or beta or to the severity of the forms of clinical manifestation of the major or minor pathology.
Deletions (deletion of some areas) in the structure of all 4 genes responsible for hemoglobin synthesis determine the appearance of severe forms of the disease, while the partial damage of a single gene generates milder forms of the condition that do not associate obvious clinical manifestations.
Severe forms of thalassemia or thalassemia major manifests clinically by:
- Sclero-integumentary jaundice
- Growth and development retardation during childhood
- Hepatosplenomegaly (enlargement of the spleen and liver)
- Endocrine abnormalities
- Severe anemia that requires regular blood transfusions throughout the patient’s life.
Leukemia
Leukemia is an oncological pathology blood characterized by the accumulation of an aberrant population of lymphocytes in the peripheral blood, bone marrow and lymphoid tissues. Chronic lymphatic leukemia CLL is the most common leukemia in adults that develops with lymphadenopathy, night sweats, fever, weight loss and lymphocytosis (increase in the number of lymphocytes in circulating blood > 5000/µl).
Acute lymphoblastic leukemia LAL is the most common type of leukemia in children that involves the increased synthesis of some leukemic cells (lymphoblasts) blocked in an early stage of development at the expense of normal blood cells (platelets, red blood cells, polymorphonuclear cells). Lymphoblasts also proliferate in other organs outside the hematogenous marrow, especially in the spleen, liver and lymph nodes, generating hepatosplenomegaly and adenopathies with various locations. The low number of neutrophils predisposes pediatric patients to the occurrence of recurrent infections, especially pneumonias with a high risk of unfavorable evolution.
Thrombophilia
Thrombophilias represent a group of hematological diseases manifested by an increased tendency of blood coagulation and formation of intravascular thrombi.
- Thrombophilia can be interest appearing after a long period of bed rest, major surgery, trauma of the lower limbs or certain oncological pathologies.
- Thrombophilia hereditary appear in the situation where there is a genetic predisposition to blood coagulation inherited from the parents. Genetic mutations can affect different coagulation factors involving factor V Leiden, factor II, protein C and S or antithrombin involved in ensuring the physiological blood coagulation processes.
The clinical manifestations of thrombophilia are multiple and depend on the place of formation of the thrombus, which may include edema, erythema and pain in the case of deep thrombosis of the lower limb, vomiting, diarrhea, severe abdominal pain for thrombosis of the abdominal vessels, dyspnea, vertigo, feeling of nausea, pain and chest constriction in patients with coronary thrombi, hemoptysis (coughing up blood), fever, sweating, dyspnea and chest pain associated with pulmonary thromboembolism.
In women of reproductive age, thrombophilia can manifest itself in premature birth, repeated pregnancy losses and infertility. During pregnancy, this is associated with an increased risk of thrombi formation with the appearance of pathological changes in the uteroplacental circulation.
Learn more about thrombophilia in pregnancy analyses, risks and treatment
Genetic testing is used both for the screening of people with a family history of hematological diseases, as well as for diagnosis, guiding the therapeutic decision, monitoring the dynamics of patients and assessing the risk of residual disease after the completion of treatment. These investigations can be used to detect hemoglobinopathies such as thalassemias (DNA sequencing of the genes that encode α and β globin synthesis), leukemias (identification of the Philadelphia chromosome, BCR ABL type p190 or BCR ABL type p210 genes), thrombophilia and other hematological pathologies.
References:
- Acute Myeloid LeukemiaRichard M. Stone, Margaret R. O’Donnell, Mikkael A. Sekeres, Hematology, ASH Education Program | American Society of Hematology
- Anemia epidemiology, pathophysiology, and etiology in low- and middle-income countriesCenters for Disease Control and Prevention
- Evaluation of Macrocytic AnemiasRalph Green, Denis M. Dwyre
- Malignant hematologic diseases in adolescents and young adultsWilliam A. Wood, Stephanie J. Lee
- Thrombophilia as a multigenic diseaseB. Zoller, P. Garcia de Frutos, A. Hillarp, B. Dahlback
- Thrombophilia in pregnancy: a systematic reviewBritish Journal of Hemat
2024-04-09 22:02:55
#common #hematological #diseases #children #adults
