Into the blood…

• Dr Shinto Francis Thekkudan MD, DM
• 30 October 2020
• Cardiology

Our blood can covertly hide secrets that aren’t easily perceivable by the naked eye. Any subtle change in the normalcy of the blood function leads to diseases such as anaemia, bleeding, leukaemia, unusual clotting tendencies and many others. Blood is composed of red blood cells (RBC), white blood cells (WBC), and platelets, all of which are produced in the bone marrow. Red blood cells, which make up about 45% of whole blood, carry oxygen from the lungs to the body’s tissue and also carry carbon dioxide back to the lungs to be exhaled. White blood cells help fight infections whereas platelets are small, colourless fragments that stick together and interact with clotting proteins to stop or prevent bleeding. Our flowing blood also has proteins that keep bleeding and clotting in balance.

So, what is haematology? When you add an -ology to the end of a word, it means “the study of.” The word “heme” comes from the Greek for blood. Haematology as a quantitative discipline began with the development of practical and reliable methods to accurately enumerate and study the various blood cells and related diseases. From time immemorial, various systems of medicine considered blood and other bodily fluids as “humours” that had to remain in proper balance to maintain health. The Egyptians used blood-letting tools for patients to prevent or cure illness and diseases. Fast forward into modern times, in 1642, Anthony van Leeuwenhoek using a simple single-lens microscope identified blood cells. In 1770, William Hewson introduced the clotting features of the blood, described the white blood cells or leukocytes for the first time as well as hypothesized the existence of the lymphatic system. Almost a century later in 1882, Julius Bizzozero identified the “platchen” having a haemostatic function which later became platelets. So, today’s haematologists focus largely on lymphatic organs and bone marrow and diagnose blood count irregularities.

Cut to the present, I saw Mr X in my office, who was referred to me for refractory anaemia i.e. very low haemoglobin requiring blood transfusion every other week. Usual routine workup for anaemia were all normal. As bone marrow is the place where all the blood cells are formed, it was decided to proceed with a diagnostic bone marrow test, which is a daycare procedure under local anaesthesia. Under the microscope, the blood cells had a peculiar appearance, which is medically called dysplasia. But this single report was not sufficient in itself to make a complete diagnosis. Hence a special test named karyotyping, which essentially looks at the genetic format of chromosomes, was done. It showed a consistent genetic defect in the 5th chromosome, known as 5q deletion. This was a rare form of myelodysplastic syndromes, which are a group of disorders caused by poorly formed blood cells that don’t work properly. Hence the identification of this 5q deletion became very vital in this case as he can have a good response with an oral medication called lenalidomide, eventually freeing him of the need for blood transfusions. Thus, karyotyping to look at the genetic layout of a patient becomes an absolute necessity rather than a fancy costly test, to crack the diagnosis in such selected cases. This is to the extent haematology as a science has developed these days, diving deeper into the genetic and molecular aspects, and more so the avalanche of cutting-edge research in the pipeline.

An organised haematology department look after blood and blood-related disorders, including nutritional and haemolytic anaemias, bone marrow failure syndromes, platelet disorders, myelodysplasias, bleeding and clotting disorders (haemophilia and others), blood cancers (leukaemia, lymphoma, multiple myeloma) and other rare malignant and non-malignant disorders. Added extension to this is stem cell transplantation which is the only curative option in certain blood cancers as well as genetic hemoglobinopathies like thalassemia. Diagnostic facilities for basic investigations, coagulation workup, bone marrow aspiration/biopsy are all available in a comprehensive haematology department. Usual treatment modalities involved in haematological disorders range from simple blood component transfusions to state-of-the-art immunotherapies which are targeted to kill a specific type of cancer cell, chemotherapies, stem cell transplantation, cellular therapies like chimeric antigen receptor T (CART) cell therapies and many more. And the best thing is, most of these newest modalities are already easily available and accessible in our country. Thus, many of the deadly blood cancers which were previously considered incurable, are now curable or adequately controlled with appropriate treatment and a near-normal life can be expected.

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