Haematology

Haematology, a subspecialty of internal medicine, focuses on blood-forming organs, blood, and blood diseases. This is a field of study, diagnosis, treatment, and prevention of diseases caused by abnormalities in blood components such as blood cells, blood proteins, platelets, haemoglobin, and blood vessels. As well as blood-producing organs, bone marrow, and spleen.

This is a speciality responsible for benign and malignant disorders of platelets, red and white blood cells, immunocytes, and coagulation systems in children and adults.

Haematologists treat patients with serious life-threatening diseases such as lymphoma, leukaemia, and myeloma, requiring chemotherapy. Haematologists specialize in blood coagulation systems, blood transfusion, or haemoglobin disorders.

Types

A haematologist commonly specializes in one of the following specialities.

• Hemoglobinopathy: It is a study of haemoglobin disorders in which there is abnormal production or molecule structure. Haemoglobin is a protein in red blood cells which carries oxygen throughout the body. This is a hereditary disorder; most common disorders include haemoglobin C disease, haemoglobin S-C disease, sickle cell anaemia, and Thalassemia.
• Hematological malignancy: Haematological malignancies are cancers that form in the bone marrow or cells of the immune system. This can be developed in blood-forming tissues. The three major types of haematological malignancy are leukaemia, lymphoma, and multiple myeloma. Haematological cancers are caused due to uncontrolled division of abnormal cells. These abnormal cells do not respond to control mechanisms that limit growth and division.
• Coagulopathy: Coagulopathy refers to blood disorders and bleeding disorders, specifical the formation of blood clots in the body. Blood disorders, such as haemophilia, make it difficult for the body to control bleeding. The most common symptoms are the tendency to bleed or bruise easily, bleeding in the gums and mouth, and swelling and redness on the body.
• Anaemia: Anaemia is a health condition in which blood doesn't have enough red blood cells. A low count of healthy red blood cells leads to an inadequate supply of oxygen to the body tissues. The most common types of anaemia are Aplastic anaemia, Iron deficiency anaemia, Sickle cell anaemia, Thalassemia, and Vitamin deficiency anaemia.

Symptoms

The various signs and symptoms that may suggest abnormalities in the blood include:

• Excessive bleeding or bruising
• Frequent and unexplained nose bleeding
• Recurring infections
• Shortness of breath
• Dizziness or headache
• Pale skin
• Fever and sudden weight loss
• Night sweats
• Fatigue or weakness
• Chest pain, head and neck pain
• Vomiting
• Joint swelling and stiffness

When to see a haematologist?

A patient needs to visit a haematologist if they are diagnosed with any of the blood disorders or if they have:

• Prolonged fever not responding to routine therapy
• Nodes in the body not responding to routine therapy
• Abnormal blood counts-High or low white blood cell or platelet counts
• Bleeding manifestation
• Clotting issues
• Recurrent infections
• Prolonged or excessive bleeding
• Blood in the urine
• Persistent symptoms

Diseases that haematologist treat:

Haematologists work closely with other healthcare professionals, including pharmacists, nurses, and general practitioners. They treat:

• Anaemia
• Blood cancer
• Lymphoma or myeloma
• Aplastic Anaemia
• Bone marrow failure syndromes
• Myelodysplastic syndrome
• Myeloproliferative disease
• Myelofibrosis
• Hemochromatosis (excess absorption of iron by the body)
• Hemoglobinopathy-Thalassemia, Sickle Cell Anemia
• Polycythemia
• Blood coagulation disorders
• Blood clots
• Von Willebrand disease
• Bleeding disorder
• Hemophilia
• Vitamin K deficiency

Diagnosis

Depending on the signs and symptoms, haematologists may perform a wide range of tests to evaluate and interpret results for diagnosis and treatment. A haematological test can diagnose diseases such as anaemia, infections, blood clotting disorders, haemophilia, leukaemia, and much more.

• Blood test: The blood samples may be collected and checked in the laboratory for abnormalities. Blood is checked for protein in red blood cells and white blood cells. Blood tests are conducted to evaluate a variety of blood conditions infection, anaemia, inflammation, haemophilia, blood-clotting disorders, leukaemia, anaemia, and bone marrow disease.
• Complete blood cell count (CBC) and Peripheral Smear: Complete blood cell count tests evaluate several blood factors, such as red blood cells, which carry oxygen; white blood cells that fight infection; haemoglobin, which carries in the body; plasma; and platelets. An abnormal count of blood cells may indicate an underlying blood disease or condition such as infection, anaemia, and leukaemia.
• Bone marrow aspiration and biopsy: Bone marrow aspiration and biopsy is a diagnostic procedure in which the tissue sample of bone marrow is collected to examine the bone marrow for diseases. This test evaluates whether the bone marrow is producing a healthy amount of blood cells. Doctors can diagnose bone marrow diseases and cancers through this test.
• Platelet count: The platelet count test measures the number of platelets in the blood. A lower amount of platelets may indicate thrombocytopenia, a condition that causes excessive bleeding due to injury or cuts. A higher platelet count indicates thrombocytosis, which may cause more blood clotting. These blood clots may interrupt or stop the blood flow.
• Blood enzyme tests: Also known as enzyme markers, this test measures proteins and enzymes in the blood to diagnose tissue damage or diseases. Musculoskeletal diseases, organ damage, and injuries cause enzymes to leak into the blood. High levels of cardiac enzymes may indicate heart damage, High levels of CPK isoenzymes indicate muscle disease, and high levels of liver enzymes indicate liver damage.
• Complete Iron Profile: The iron profile test measures iron in the blood to evaluate metabolized iron in the body. Iron is needed for haemoglobin, a protein in RBC that carries oxygen. Complete iron profile test includes measuring serum iron and transferrin levels and transferrin saturation. This test is conducted to diagnose anaemia and other ion-related disorders.
• Immunoglobulins Blood Test: Immunoglobulins Blood Test measures immunoglobulins (antibodies). Antibodies are proteins created by the immune system to fight substances such as viruses and bacteria. This test is conducted to diagnose bacterial or viral infection, immune deficiency, autoimmune disorders, and cancer, such as multiple myeloma.
• Hemoglobinopathy test: A Hemoglobinopathy test is conducted to evaluate abnormal structures or amounts of haemoglobin. This test identifies haemoglobin disorders.
• Immune phenotyping: An immune phenotyping test examines cells based on markers, also called antigens, that are present on a cell's surface, nucleus, or cytoplasm. This test identifies the lineage of cells using antibodies to detect markers present on cells. This test diagnoses leukaemia, lymphoma, and blood cell cancers.
• Cytogenetics and Molecular Studies: Cytogenetics is a diagnostic procedure to test blood and bone marrow samples for changes in chromosomes (missing, broken, restructured, or extra chromosomes). Changes in chromosomes indicate genetic diseases, conditions, or some types of cancer.

Review

Reviewed by Dr. Rahul Naithani, Director, Bone Marrow Transplant, Hematology Oncology, Haematology (Hematology) on 13-Dec-2022