Haematological Disorders

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Hereditary blood disorders are caused by alterations in the production or function of components of the blood, such as red blood cells, white blood cells, or platelets. There are more than 20 million patients living with inherited blood disorders worldwide. Blood disorders can cause various symptoms, such as swelling and redness of extremities (poor blood clot), increased bleeding without significant injury (haemophilia), or pale skin and fatigue (anaemia).

Haematological Disorders

Haematological Disorders

Red Blood Cell Disorder

Aplastic Anemia Learn More

Defining Aplastic Anaemia
Aplastic anaemia is an uncommon but deadly blood condition that develops when the bone marrow's stem cells are harmed. The spongy portion of the bone called the bone marrow is where red, white and platelet-producing blood cells are made. Aplastic anaemia is characterised by injured stem cells, which leave the bone marrow empty or with few blood cells. There are two: inherited and acquired. Genetic diversity is what results in inherited. Toxic chemical exposure, radiation and chemotherapy treatments, the use of specific medicines, autoimmune illnesses, viral infections, etc. can all contribute to acquired.

Sickle Cell Anemia Learn More

Sickle Cell Anaemia Explained
The blood condition sickle cell anaemia is hereditary. It is brought on by deformed red blood cells produced by defective haemoglobin. These sickle- or crescent-shaped red blood cells are inflexible, sticky, incredibly brittle and prone to rupture, in contrast to the rounded and flexible red blood cells. Anaemia is brought on by these cells rupturing (hemolysis) and some of these cells may clog blood vessels, harming the tissue and organ and causing pain. This aberrant haemoglobin is produced as a result of specific genetic variations. To affect the child, both parents must carry the sickle cell gene.

High Altitude Polycythemia Learn More

Defining High-altitude Polycythemia
Chronic condition known as high-altitude polycythemia causes abnormally high levels of red blood cells. This happens to make up for the low oxygen levels in the environment and the insufficient tissue oxygenation. High red blood cell counts cause the blood to be thick, which harms the microcirculatory system and impairs immunological function. Additionally, it leads to thrombosis, severe organ damage and sleep problems. Haemoglobin concentrations of less than 19 g/dL for females and less than 21 g/dL for males are used to identify high-altitude polycythemia. High-altitude polycythemia risk may be increased by specific genetic variants.

Iron Deficiency Anemia Learn More

How is iron deficiency anaemia defined?
Anaemia caused by a lack of iron in the blood is known as iron deficiency anaemia. The body needs iron to produce haemoglobin, a substance that carries oxygen throughout the body as part of blood. Because there aren't nearly enough healthy red blood cells to hold the necessary amounts of oxygen for the body's requirements, people with iron deficiency anaemia experience acute exhaustion and shortness of breath. Several reasons, including certain genetic abnormalities, blood loss, a shortage of iron in the diet and an inability to absorb iron, can result in iron deficiency anaemia.

Platelet Disorder

Essential Thrombocytosis Learn More

The definition of essential thrombocytosis
A rare myeloproliferative condition called essential thrombocytosis (ET), also known as primary thrombocythemia, causes an excess generation of platelets. Too many platelet-producing cells are produced by the bone marrow, leading to improper blood clotting or bleeding disorders. On rare occasions, patients with an underlying infection or iron deficiency develop secondary thrombocytopenia. The improper function of extra platelets causes them to clump together and form clots, which can result in potentially fatal consequences like heart attack, stroke and pregnancy issues. Essential thrombocytosis risk is increased by specific genetic variants. Over 450 000 platelets per microliter of blood are present in the blood.

Immune Thrombocytopenia Learn More

Understanding immune thrombocytopenia
A bleeding illness called immune thrombocytopenia is brought on when the body's immune system assaults and kills the platelets. Typically, platelets are needed to aid in blood clotting. The breakdown of the platelets lowers the count, which is referred to as thrombocytopenia, which results in clotting issues and excessive bleeding and bruising. People with this illness frequently develop purpura, which are purple bruises. Petechiae, which are tiny red or purple spots on the skin, can also result from it. This condition may be brought on by bacterial illnesses like H. Pylori in the stomach or viral infections like HIV, hepatitis, etc.

Von Willebrand Disease Learn More

Von Willebrand disease definition
A protein that aids in clotting called the Von Willebrand factor is absent in people with Von Willebrand disease, which is a bleeding illness. This protein is either not functioning properly or is present in low amounts in this disease. As a result, it prevents platelets from attaching to the damaged blood arteries, leading to clotting issues or protracted bleeding. Rarely people who did not inherit a defective gene from their parents can get Willebrand disease later in life. This is frequently referred to as acquired Willebrand syndrome and is probably brought on by another health issue.

Clotting Disorder

Thrombophilia Learn More

What exactly is thrombophilia?
In thrombophilia, abnormal blood clotting within blood vessels develops even in the absence of injury, a condition known as hypercoagulability, which is caused by an imbalance in the blood clotting proteins. Either the body produces an excessive amount of the clotting protein or not enough of the protein that prevents clotting. Blood clots may totally block blood vessels, depriving tissues or organs of oxygen. Deep vein thrombosis or pulmonary embolism can also be brought on by a blood clot that breaks off and travels through the bloodstream. Additionally, a heart attack or stroke could result.

Description of Test

Major hematologic diseases are directly related to or could be caused by the genetic variations examined in this test.

Genetic variations linked to a variety of blood problems, such as clotting disorders, red blood cell disorders and platelet disorders, are discovered using haematological tests. This panel examines genes implicated in immune response and inflammation, as well as genetic variations known to alter blood cell formation and function.

This panel is intended for people who have a family history of blood disorders or who are experiencing symptoms like easy bruising, unusual bleeding, or exhaustion. Genetic testing can support a diagnosis, offer details on the severity and development of a disease and help with treatment and management choices. Testing can also reassure unaffected family members and help with family planning decisions.

Genetic testing can confirm a diagnosis, provide information on disease severity and progression and inform treatment and management decisions.

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