Blood Cell Disorders

What are blood cell disorders?

Blood cell disorders refer to conditions where there are abnormalities or dysfunctions in red blood cells, white blood cells, or platelets, which are essential components involved in various vital functions of the body. Red blood cells are responsible for transporting oxygen to organs and tissues. White blood cells play a crucial role in the immune system, defending the body against infections.

Platelets are necessary for blood clotting, preventing excessive bleeding.
These blood cell types are produced in the bone marrow, the soft tissue inside bones. Blood cell disorders can arise due to various factors such as genetic mutations, autoimmune conditions, infections, and certain medications. These factors can disrupt the formation and proper functioning of one or more types of blood cells, leading to various health complications.

What are the symptoms of blood cell disorders?

It’s important to be aware that symptoms can vary significantly depending on the type of blood cell disorder. Common symptoms of red blood cell disorders are:

• Fatigue
• Shortness of breath
• Trouble concentrating from lack of oxygenated blood in the brain
• Muscle weakness
• A fast heartbeat

Common symptoms of white blood cell disorders are:

• Chronic infections
• Fatigue
• Unexplained weight loss
• Malaise, or a general feeling of being unwell

Common symptoms of platelet disorders are:

• Cuts or sores that don’t heal or are slow to heal
• Blood that doesn’t clot after an injury or cut
• Skin that bruises easily
• Unexplained nosebleeds or bleeding from the gums

Many types of blood cell disorders can significantly affect your overall health.

Red blood cell disorders
Red blood cell disorders affect the body’s red blood cells, which carry oxygen from the lungs to the rest of the body. Various disorders can affect both children and adults. Some, such as anaemia, are common, affecting millions worldwide.

1. Anemia

Anaemia is one type of red blood cell disorder. A lack of the mineral iron in your blood commonly causes this disorder. Your body needs iron to produce the protein haemoglobin, which helps your red blood cells (RBCs) carry oxygen from your lungs to the rest of your body. There are many types of anaemia.

Iron deficiency anaemia: Iron deficiency anaemia occurs when your body does not have enough iron. Iron supplementation usually cures this type of anaemia.

Pernicious anaemia: Pernicious anaemia is an autoimmune condition in which your body cannot absorb sufficient amounts of vitamin B-12.

Aplastic anaemia is a rare but severe condition in which the bone marrow stops making enough new blood cells.

Autoimmune hemolytic anaemia (AHA): Autoimmune hemolytic anaemia (AHA) causes your immune system to destroy your red blood cells faster than your body can replace them.

Sickle cell anaemia: Sickle cell anaemia (SCA) is a type of anaemia that draws its name from the unusual sickle shape of the affected red blood cells. The sickle-shaped red blood cells can’t carry as much oxygen to your tissues as normal red blood cells can. They may also become stuck in your blood vessels, blocking blood flow to your organs. This can lead to a range of complications, including chronic pain, organ damage, and increased risk of infections.

2. Thalassemia

Thalassemia is a group of inherited blood disorders. These disorders are caused by genetic mutations that prevent the normal production of haemoglobin. When red blood cells do not have enough haemoglobin, oxygen doesn’t reach all body parts. Organs then do not function properly. These disorders can result in:

• Bone deformities
• Enlarged spleen
• Heart problems
• Growth and developmental delays in children

3. Polycythemia vera

Polycythemia is a blood cancer caused by a gene mutation. If you have polycythemia, your bone marrow makes too many red blood cells. This causes your blood to thicken and flow more slowly, putting you at risk for blood clots that can cause heart attacks or strokes. There is no known cure. Treatment involves phlebotomy, or removing blood from your veins, and medication.

White blood cell disorders

White blood cells (leukocytes) help defend the body against infection and foreign substances. White blood cell disorders can affect your body’s immune response and your body’s ability to fight off infection. These disorders can affect both adults and children.

• Lymphoma

Lymphoma is a blood cancer that occurs in the body’s lymphatic system. Your white blood cells change and grow out of control. Hodgkin’s lymphoma and non-Hodgkin’s lymphoma are the two major types of lymphoma.

• Leukaemia

Leukaemia is a blood cancer in which malignant or cancerous white blood cells multiply inside your body’s bone marrow. Leukaemia may be either acute or chronic. Acute leukaemia progresses rapidly, while chronic leukaemia advances more slowly and may not require immediate treatment.

• Myelodysplastic syndrome (MDS)

Myelodysplastic syndrome (MDS) is a condition that primarily impacts the bone marrow’s production of white blood cells. In MDS, there is an overproduction of immature cells known as blasts. These blasts proliferate excessively, displacing and reducing the number of mature and healthy cells in the bone marrow. The progression of myelodysplastic syndrome can vary, occurring either gradually or more rapidly. In some cases, MDS can progress to leukaemia.

Platelet disorders

Platelets are critical in responding to injuries by forming temporary plugs that prevent excessive blood loss. However, disorders affecting platelets can lead to various abnormalities:

Not enough platelets: This condition, known as thrombocytopenia, increases the risk of severe bleeding, even from minor injuries.

Too many platelets: Known as thrombocythemia, this disorder can lead to abnormal clotting, potentially blocking major arteries and causing strokes or heart attacks.

Platelets that don’t clot correctly: Deformed platelets may fail to adhere to other blood cells or blood vessel walls, resulting in improper clot formation and risking significant blood loss.

Platelet disorders are often genetic and inherited. Some common types include:

• Von Willebrand disease is the most prevalent inherited bleeding disorder. It is caused by a deficiency in von Willebrand factor, a protein critical for blood clotting.
• Haemophilia: Haemophilia is a well-known clotting disorder that primarily affects males. A deficiency in clotting factors leads to prolonged and excessive bleeding, both internally and externally.
• Primary thrombocythemia: A rare disorder where the bone marrow produces an excessive number of platelets, increasing the risk of abnormal blood clotting, strokes, heart attacks, and potentially other blood disorders or cancers if untreated.

Effective management of these disorders often involves specialised treatments tailored to the specific condition, aiming to balance clotting ability and reduce associated risks.

• Acquired platelet function disorders

               Certain drugs and medical conditions can also affect the functioning of platelets.  These include:

• Aspirin
  • Nonsteroidal anti-inflammatory (NSAIDs)
  • Some antibiotics
  • Heart drugs
  • Blood thinners
  • Antidepressants
  • Anaesthetics
  • Antihistamines

Plasma cell disorders

A wide variety of disorders affect plasma cells, the type of white blood cells in your body that make antibodies. These cells are essential to your body’s ward off infection and disease.

Plasma cell myeloma

Plasma cell myeloma, or multiple myeloma, is a rare type of blood cancer originating in plasma cells within the bone marrow. These malignant plasma cells accumulate and form tumours, typically in bones like the spine, hips, or ribs. One of the hallmarks of this disease is the production of abnormal antibodies called monoclonal proteins (M proteins), which can lead to complications such as thickened blood and kidney damage as they accumulate and crowd out healthy proteins in the bone marrow. The exact cause of plasma cell myeloma remains unknown.

How are blood cell disorders diagnosed?

Diagnosis of blood cell disorders involves several tests, including a complete blood count (CBC), to assess levels of different blood cell types. Additionally, a bone marrow biopsy may be performed to examine for the presence of abnormal cells in the marrow, involving the removal of a small sample for testing.

What are the treatment options for blood cell disorders?

Treatment options for blood cell disorders vary based on the specific condition, the patient’s age, and overall health. Treatment strategies often involve a combination of approaches:

• Medication: Depending on the disorder, medications may be prescribed. For example, Nplate (romiplostim) stimulates platelet production in platelet disorders, while antibiotics can combat infections in white blood cell disorders. Iron or vitamin B-12 supplements can address anaemia caused by deficiencies.
• Surgery: In cases where bone marrow is severely affected, bone marrow transplants may be considered. This procedure involves transplanting stem cells, typically from a donor, to help regenerate healthy bone marrow and restore normal blood cell production. Blood transfusions are also utilised to replace damaged or lost blood cells.

Both bone marrow transplants and blood transfusions require careful consideration and specific criteria to ensure their effectiveness and minimise risks.

Managing blood cell disorders involves close collaboration between patients, healthcare providers, and specialists to tailor treatments that address the underlying causes and effectively manage symptoms.