Blood cell disorders are conditions that affect any of your blood cells – these are your red and white blood cells, and even your platelets. All of these cells are formed in your bone marrow. While some disorders disrupt the function of one of these cells, they may also impair multiple blood cells and their given function.
Below are some common benign blood conditions that affect one’s blood cells and platelets. To help our patients better understand each condition, we have included the symptoms, risk factors, means of diagnosis, and treatment options for each of these benign blood conditions.
What Is Anaemia?
Anaemia is a blood cell disorder that affects the function of your red blood cells. If you suffer from anaemia, your body lacks the healthy blood cells needed to carry oxygen to the rest of your body. Anaemia is also sometimes referred to as low haemoglobin.
What Are the Signs & Symptoms of Anaemia?
The signs and symptoms related to anaemia depend on the severity and type of anaemia you have been diagnosed with. Additionally, anaemia may sometimes present with no symptoms. However, some symptoms that may be indicative of anaemia include:
What Are the Risk Factors of Anaemia?
Anaemia is often linked to a lack of specific vitamins and minerals, chronic conditions, and intestinal disorders. Additionally, other risk factors for anaemia include pregnancy, menstruation, age, and a family history of anaemia.
How Is Anaemia Diagnosed?
In order to diagnose anaemia, our haematologists may recommend a full blood count (FBC), which will inform us of the level of red blood cells present in your blood.
What Are the Treatment Options Available for Anaemia?
The recommended treatment of anaemia depends on the cause.
If it is due to dietary deficiency, the supplementation of the deficient nutrients (folate, iron or vitamin B12) may be adequate. If there are other causes, the treatment will need to be directed accordingly.
What Is Iron Deficiency Anaemia
Iron deficiency anaemia is a common form of anaemia when the body has insufficient iron to produce haemoglobin.
What Are the Signs & Symptoms of Iron Deficiency Anaemia?
Some common symptoms of iron deficiency anaemia are general fatigue, unusual weakness, pale skin, a tingling sensation in the legs, swelling and soreness of the tongue, brittle nails, and frequent headaches.
What Are the Risk Factors of Iron Deficiency Anaemia?
Iron deficiency anaemia typically results from low dietary intake, blood loss, increased need for iron during pregnancy, and reduced iron absorption from one’s diet. The risk factors for iron deficiency include age, genetic conditions, and lifestyle choices.
How Is Iron Deficiency Anaemia Diagnosed?
Our haematologists may recommend a series of tests to diagnose iron deficiency anaemia. These tests may include a full blood count (FBC), an iron profile, and additional diagnostic tests may be required, such as a colonoscopy and endoscopy to exclude any gut causes.
What Are the Treatment Options Available for Iron Deficiency Anaemia?
Treatment options for iron deficiency anaemia may include oral iron supplements, intravenous iron infusion, and red blood cell transfusion.
You can find more information on iron deficiency anaemia, its symptoms, risk factors, and treatment options here.
What Is Aplastic Anaemia?
Aplastic anaemia is a rare and serious condition when inadequate blood cells are produced in the body. This causes the body to feel fatigued and may increase the risk of both uncontrolled bleeding and infections.
What Are the Signs & Symptoms of Aplastic Anaemia?
Aplastic anaemia may not always present with symptoms. However, some common symptoms include:
What Are the Risk Factors of Aplastic Anaemia?
Some risk factors of aplastic anaemia include exposure to toxic chemicals, radiation or chemotherapy in the treatment of cancer, certain prescription drugs, pregnancy, and autoimmune disorders.
How Is Aplastic Anaemia Diagnosed?
Aplastic anaemia is diagnosed by examining samples of your blood and bone marrow.
This includes:
What Are the Treatment Options Available for Aplastic Anaemia?
The treatment for aplastic anaemia depends on the age and severity of the patient’s condition. Treatment aims to restore blood cell production. It may resolve spontaneously without treatment if the condition is mild, although this is not very common. Patients are likely to need blood and platelet transfusions to prevent and control infections.
You can find more information on aplastic anaemia and its treatment options here.
What Is Thalassaemia?
Thalassaemia is a genetic blood disorder affecting the production of red blood cells. Abnormal production of blood means that affected individuals do not make adequate amounts of functional red blood cells.
There are several types of thalassaemia, and the most common forms are alpha and beta thalassaemia. Clinically, patients with thalassaemia can present with thalassaemia minor or thalassaemia major.
What Are the Signs & Symptoms of Thalassaemia?
The symptoms of thalassaemia can vary, and some people have no visible symptoms, while others develop symptoms later in adolescence. Some of the most common symptoms include:
What Are the Risk Factors of Thalassaemia?
Some risk factors of thalassaemia include a family history of the condition and specific ancestries.
How Is Thalassaemia Diagnosed?
For our haematologists to diagnose thalassaemia, they may recommend a full blood count (FBC). More specific blood tests such as haemoglobin electrophoresis and red cell genotyping are needed to clarify the diagnosis of thalassemia and determine the sub-group of thalassemia.
What Are the Treatment Options Available for Thalassaemia?
Depending on the type of thalassaemia you have been diagnosed with, the treatment options may vary – some forms of thalassaemia require no treatment. However, should you require treatment, our haematologists at CFCH may recommend iron chelation, blood transfusions, bone marrow or blood stem cell transplants.
You can find more information on the different types of thalassaemia and its treatment options here.
What Are the Signs & Symptoms of Deep Vein Thrombosis (DVT)?
Deep Vein Thrombosis (DVT) is a blood condition in which a blood clot (thrombus) forms in a blood vessel located deep in the body, usually in the leg or arm. This results in the blood flow through the vein being wholly or partially blocked, causing the affected limb to become painful, red and swollen.
What Are the Risk Factors of Deep Vein Thrombosis (DVT)?
Various risk factors increase your chances of developing deep vein thrombosis. These include prolonged bed rest or sitting for long periods, age, being overweight, smoking, cancer, heart failure, genetics, birth control pills, and pregnancy.
How Is Deep Vein Thrombosis (DVT) Diagnosed?
An ultrasound is typically used in the diagnosis of deep vein thrombosis. It allows our haematologists to check if your blood is flowing normally through the veins.
What Are the Treatment Options Available for Deep Vein Thrombosis (DVT)?
The recommended treatment is an anticoagulant, a medication that will thin the blood and prevent the clot from getting bigger and stop it from breaking off and causing a pulmonary embolism. The blood clot will naturally dissolve in your body over time.
You can find more information on deep vein thrombosis (DVT) and its treatment options here.
What Is Pulmonary Embolism?
Pulmonary embolism refers to a condition in which a blood clot (thrombus) lodges itself in a blood vessel in the lung. A PE usually starts as a clot in the deep veins (also known as deep vein thrombosis or DVT) in the leg that has broken away and flowed to the lungs. This can be a life-threatening condition if not treated quickly.
What Are the Signs & Symptoms of Pulmonary Embolism?
Some common symptoms of pulmonary embolism include difficulty breathing, coughing up blood, and pain in the chest or upper back.
What Are the Risk Factors of Pulmonary Embolism?
The most common risk factors for pulmonary embolism include inherited conditions (blood clotting disorders), having been immobile for long periods, and a history of cancer or receiving chemotherapy.
How Is Pulmonary Embolism Diagnosed?
Our haematologists may order specific blood tests (including a test known as D-dimer), an ECG, a pulmonary angiogram, an x-ray of the chest, and other diagnostic tests to diagnose pulmonary embolism.
What Are the Treatment Options Available for Pulmonary Embolism?
Depending on a patient’s overall health, various treatment options may be recommended for pulmonary embolism. These include anticoagulant medications, compression stockings, and thrombolytic therapy.
You can find more information on pulmonary embolism, its treatment options, and the potential risks and side effects of anticoagulant medications here.
What Is Immune Thrombocytopenia (ITP)?
Immune Thrombocytopenia is an autoimmune disorder that causes a low platelet count, which results in abnormal bleeding and bruising.
What Are the Signs & Symptoms of Immune Thrombocytopenia (ITP)?
Patients with Immune Thrombocytopenia who have a platelet count higher than 50 may not exhibit any signs of the disease. The low platelet count is usually detected during a routine blood test in these cases. People with very low platelet counts may develop symptoms such as petechiae (pin prick rash), bruising, purpura (purple coloured spots on the skin), bleeding from the nose and gums, heavy menstrual periods and fatigue.
What Are the Risk Factors of Immune Thrombocytopenia (ITP)?
Some risk factors of immune thrombocytopenia include sex, which has been found to be more common in women, and diseases such as lupus and rheumatoid arthritis.
How Is Immune Thrombocytopenia (ITP) Diagnosed?
Patients with Immune Thrombocytopenia who have a platelet count higher than 50 may not exhibit any signs of the disease. The low platelet count is usually detected during a routine blood test in these cases.
What Are the Treatment Options Available for Immune Thrombocytopenia (ITP)?
Patients with mild ITP usually do not require any active treatment. However, their platelet count should be monitored regularly. Treatment of ITP aims to raise the platelet count and suppress the body’s immune system to reduce platelet destruction.
First line treatments for ITP include steroids, such as prednisolone, and intravenous immunoglobulin (IVIG). These help by dampening the immune response and preventing platelets’ destruction.
You can learn more about immune thrombocytopenia, its treatment, and its symptoms here.
What Is von Willebrand’s Disease (vWD)?
Von Willebrand’s disease (vWD) is one of the most common bleeding disorders that occur due to the low levels of or improper functioning of the von Willebrand factor (vWF) in the blood.
What Are the Signs & Symptoms of von Willebrand’s Disease (vWD)?
The symptoms of vWD can be either too mild to be noticed or extremely severe and frequent. The symptoms may begin at any age and may include lumpy bruises, blood in urine and stools, and long-lasting bleeding. Additionally, patients with vWD may notice symptoms similar to anaemia, such as weakness and fatigue.
What Are the Risk Factors of von Willebrand’s Disease (vWD)?
The most prominent risk factor for von Willebrand’s Disease is a family history.
How Is von Willebrand’s Disease (vWD) Diagnosed?
To diagnose von Willebrand’s Disease, our haematologists may ask questions about your family history. Additionally, our doctor will check for unusual bruising and run blood tests to determine how your blood clots.
What Are the Treatment Options Available for von Willebrand’s Disease (vWD)?
Currently, there is no cure for vWD. However, the condition can be controlled using medicines and other therapies such as antifibrinolytic agents, Desmopressin, and replacement therapies.
You can learn more about von Willebrand’s Disease and its treatment options here.
Inherited red cell disorders are disorders that are passed down genetically. Two common types of inherited red cell disorders are sickle cell disease and thalassemia.
A genetic mutation causes thalassemia, and these mutations hinder the normal production of haemoglobin in the body. As mentioned, without sufficient haemoglobin, oxygen is unable to be transported to the rest of the body. Without enough oxygen, your organs will not be able to function well. This can result in conditions such as an enlarged spleen, heart issues, bone deformities, and both developmental and growth delays in children.
Treatment for thalassemia is generally blood transfusions and folic supplements. A stem cell transplant may also be recommended in some severe forms of thalassemia.
Sickle cell disease refers to a group of red blood cell disorders that are inherited. Healthy red blood cells are rounded and disk-shaped. If someone has sickle cell disease, their red blood cells are C-shaped, hard, and sticky. They are unable to carry oxygen properly and can often clog the blood flow. This can result in strokes, acute chest syndrome, and infections. Treatment for sickle cell disease varies and depends highly on the symptoms of the patient.
Haemochromatosis is another inherited blood disorder. In haemochromatosis, iron levels in the body build up slowly – this is also known as iron overload. This can damage various organs and joints in the body.
While there is no cure for haemochromatosis, there are treatments available to help manage the condition. These include procedures to remove some of your blood (venesection) and drugs to reduce the iron in your body (chelation therapy).
Additionally, our doctor may advise that you alter your diet to avoid foods supplemented with iron and drinking alcohol.
Polycythaemia is a condition where there is a high concentration of red blood cells in the blood. This causes the blood to become thick and viscous which means it is less able to travel around the body. Symptoms of polycythaemia including headaches, blurred vision, red skin are caused by the sluggish blood flow. Polycythaemia can cause blood clots such as Deep Vein Thrombosis (DVT) and Pulmonary Embolism (PE) and can be life threatening.
Polycythaemia can be diagnosed on blood tests by looking at the number of red blood cells in your blood (haemoglobin) and the concentration of red blood cells (haematocrit). Genetic tests for the JAK2 gene may also be done as mutations in this gene can cause a condition known as polycythaemia vera (PV).
Treatment for polycythaemia aims to prevent symptoms and complications. These include venesection which involves removing about 0.5 litres of blood from the body similar to the procedure used during blood donation. This is the fastest way to reduce the number of red blood cells in the body. Medication may also be given such as hydroxycarbamide or interferon.
Your white blood cells play a vital role in your immune system. You have five main types of white blood cells; they are neutrophils, lymphocytes, eosinophils, monocytes, and basophils. Some white blood cell disorders involve all the different types of white blood cells in the blood, while other disorders only involve one or two specific types. The most commonly affected white cells are neutrophils and lymphocytes.
Doctors can check your white blood cell counts through a blood test. If your white blood cell counts are abnormal, either high or low, they could be an indicator of various blood disorders.
Some symptoms of an abnormal white blood cell count generally are fever, chills, headaches, and body aches. These symptoms are caused by the underlying condition that is causing the abnormal blood cell count.
An abnormal blood cell count could be related to several things, such as:
Platelet Disorders
Your platelets are responsible for the prevention of excessive bleeding should you be injured or suffer from a cut. Platelet disorders can occur when there are not enough platelets, too many platelets or when the platelets do not clot properly.
Too few platelets such as in ITP can mean that even a superficial injury results in exceeding bleeding. Conversely, too many platelets can result in blood clots, pulmonary embolism, deep venous thrombosis or blockages in major arteries that could lead to a heart attack or stroke.
When platelets do not clot properly, this can lead to excessive blood loss and conditions such as haemophilia. Haemophilia is one of the most common blood clotting disorders. It is typically found in men, and can result in internal or external bleeding.
Another disorder where platelets cannot clot well is Von Willebrand disease. This disorder occurs because the body lacks von Willebrand factor (VWF) which is required for platelets to stick together and form clots. The majority of cases are relatively mild, and people may only need treatment if they are injured or require surgery.
The information on the Centre For Clinical Haematology website is intended for educational use. It should not be considered or used as a substitute for medical advice, diagnosis or treatment from a qualified health professional.
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