Myelodysplastic Syndrome (MDS): Practice Essentials, Pathophysiology, Etiology
Red Blood Cell (RBC) Count
Your RBC count may become too high or too low if you have certain health conditions, including nutritional deficiencies, erythrocytosis, and some chronic health conditions.
A red blood cell count is a blood test that your doctor uses to find out how many red blood cells (RBCs) you have. It's also known as an erythrocyte count.
Your hematocrit is the volume of red blood cells in your body. A hematocrit test measures the ratio of RBCs in your blood.
Platelets are small cells that circulate in the blood and form blood clots that allow wounds to heal and prevent excessive bleeding.
Your doctor may order the test if they suspect you have a condition that affects your RBCs, or if you show symptoms of low blood oxygen. These could include:
A CBC will often be part of a routine physical exam. It can be an indicator of your overall health. It may also be performed before a surgery.
If you have a diagnosed blood condition that may affect RBC count, or you're taking any medications that affect your RBCs, your doctor may order the test to monitor your condition or treatment. Doctors can use CBCs to monitor conditions like leukemia and infections of the blood.
An RBC count is a simple blood test performed at your doctor's office. A healthcare professional will draw blood from your vein, usually on the inside of your elbow. They will then:
After collecting your blood sample, your doctor's office will send it to a laboratory for analysis.
There's typically no special preparation needed for this test. But you should tell your doctor if you're taking medications. These include any over-the-counter (OTC) drugs or supplements.
Your doctor will be able to tell you about any other necessary precautions.
As with any blood test, there's a risk of bleeding, bruising, or infection at the puncture site. You may feel moderate pain or a sharp pricking sensation when the needle enters your arm.
RBC ranges are measured in terms of cells per microliter (µL). Normal ranges for RBC differ based on age and sex assigned at birth.
These ranges may vary depending on the laboratory or doctor. Ranges may also differ for those who are pregnant.
If your RBC count is too high or too low, you could experience symptoms and complications.
If you have a low RBC count, symptoms could include:
If you have a high RBC count, you could experience symptoms such as:
If you experience these symptoms your doctor can order an RBC count.
If your number of RBCs is lower than normal, you have anemia. This can be caused by a decrease in RBC production or by the destruction or loss of RBCs. There are many possible causes for anemia.
Nutritional Deficiency
Iron-deficiency anemia is the most common type of anemia, but lack of other nutrients can also cause your RBC count to decrease. These include:
Bone marrow failure
In rare cases, your bone marrow might stop making new blood cells. This is called aplastic anemia.
Aplastic anemia might be an autoimmune disorder. Certain drugs, viruses, toxins, or radiation may also cause aplastic anemia.
Hemolysis
Hemolysis is the destruction of red blood cells. Common causes of hemolysis include:
Chronic conditions
Underlying health conditions that cause inflammation may affect the way your body processes erythropoietin (EPO). EPO is a hormone that causes bone marrow to produce RBCs.
Other chronic conditions that may cause a low RBC count include, but are not limited to:
Other conditions
Other possible reasons for a lower than normal RBC count include:
Medications
Certain drugs can also lower your RBC count, especially:
If your RBC count is higher than normal, you have erythrocytosis. This causes your blood to be thicker than normal and can increase your risk of blood clots.
Primary erythrocytosis
Primary erythrocytosis is when your own body causes you to produce more RBCs. This is usually due to a problem with cells in your bone marrow. The condition is often inherited.
One such condition is polycythemia vera, a bone marrow disease that causes overproduction of RBCs and is associated with a genetic mutation.
Secondary erythrocytosis
Secondary erythrocytosis is when an external factor increases your RBC count. This could be due to a disease, drug, or another cause.
Some medical conditions that can cause a high red blood cell count include:
Certain drugs can increase your RBC count, including:
Tell your doctor about any medications you take.
Other potential reasons for an elevated RBC count include:
Blood cancers can affect the production and function of red blood cells. They can also result in unusual RBC levels.
Each type of blood cancer has a unique impact on RBC count. The three main types of blood cancer are:
Your doctor will discuss any abnormal results with you. Depending on the results, they may need to order additional tests.
These can include blood smears, where a film of your blood is examined under a microscope. Blood smears can help detect abnormalities in the blood cells (such as sickle cell anemia), white blood cell disorders such as leukemia, and bloodborne parasites like malaria.
Treatment for a low RBC count
All types of anemia require treatment. Your treatment will depend on what's causing your anemia.
Treatment for a high RBC count
If you have erythrocytosis, you may need a regular phlebotomy. This removes a small amount of blood from your body in order to lower your RBC count.
If phlebotomies don't work, your doctor may prescribe hydroxyurea (Hydrea or Droxia) to reduce your RBC count.
You may also need aspirin to help with potential blood clots.
Lifestyle changes can affect your RBC count. Some changes that can help increase your RBC count include:
If you need to decrease your RBC count, the following lifestyle changes may help:
Dietary changes
Dietary changes can play a major part in home treatment by managing your RBC count.
An RBC count that is either too high or too low can have serious health complications.
There is much you can do on your own to manage your RBC count, starting with a balanced diet and regular exercise. If you have blood cancers or chronic conditions that can affect RBC count, these lifestyle and dietary habits may be especially important.
Consult a doctor if you experience fatigue or shortness of breath. These are often symptoms of an abnormal RBC count.
One Simple Blood Test Could Predict Your Future Disease Risk
What if you could tell your future disease risk just by taking a blood test? While it might sound too good to be true, this type of test could very well be coming. According to a post shared on The Conversation, some scientists think that complete blood count tests could soon be used to help doctors determine just that.
A complete blood count, or CBC, is one of the most common blood tests in the world. Chances are, if you have ever had a blood test, then you've had a CBC. These tests are run billions of time each year, and they help diagnose conditions like iron deficiency, low platelet counts (which can mean internal bleeding), or even signs of infection with increased white cell counts.
However, one mathematician says these tests could also help us determine our future disease risk. Brody H. Foy, Assistant Professor of Laboratory Medicine and Pathology at the University of Washington, says he and his colleagues have been looking at ways to improve clinical blood testing. One major improvement they've found is using machine learning to determine what is actually normal for a patient.
A scientist testing blood in a lab and making notes about her test results. Image source: filin174/AdobeSee, every person is different. Our bodies our different. The "normal" baselines of what our body needs are different, too. These baselines are called set points. For example, Foy says the normal platelet count at a population level is between 150 and 400 billion cells per liter of blood. However, your body's set point might only be 250, meaning your normal range is 200 to 300.
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The problem here, though, is that differences between your "true" normal range and the population-based reference can create problems for your doctor. As such, they may prove less likely to diagnose a condition if your set point is far from a cutoff. On the other hand, they could also end up running unnecessary tests if the set point is too close to a cutoff. This makes determining future disease risk more difficult on its own.
However, by adding machine learning into the mix, Foy and his colleagues believe that they could come up with a way to define what is normal for each patient more reliably. This would make it easier for doctors to determine when things are off from the patient's set point. They could then more easily diagnose diseases and conditions.
It isn't quite as spectacular as relying on AI doctors to diagnose your diseases, but machine learning is still a bit of a wild card when it comes to certain industries.
The Changing Market Dynamics Of Immune Thrombocytopenia, Aplastic Anemia, And Diamond-Blackfan AnemiaDelveInsight Insights
Blood disorders affect millions worldwide—an estimated 5% of the global population suffers from conditions like anemia, and others. Anemia is a silent epidemic, with over 2 billion people affected globally, often caused by iron deficiency or chronic diseases. With ongoing research, the treatment landscape for blood disorders continues to evolve, from targeted therapies to life-saving gene editing technologies.
LAS VEGAS, Dec. 9, 2024 /PRNewswire/ -- Blood disorders are a group of conditions that affect the production, function, or structure of blood cells, leading to various health complications. These disorders can involve issues with red blood cells, white blood cells, platelets, or the plasma components of blood. Common types of blood disorders include anemia, where there is a deficiency of red blood cells or hemoglobin, leading to fatigue and weakness, and thrombocytopenia, characterized by low platelet counts, which can cause excessive bleeding. The causes of blood disorders range from genetic factors and autoimmune conditions to infections and environmental factors. Treatment options depend on the specific disorder and may include medications, blood transfusions, or bone marrow transplants.
DelveInsight has recently released a series of epidemiology-based market reports focusing on blood disorders including Immune Thrombocytopenia, Aplastic Anemia, and Diamond-Blackfan Anemia. These reports include a comprehensive understanding of current treatment practices, emerging drugs, market share of individual therapies, and current and forecasted market size from 2020 to 2034 segmented into 7MM [the United States, the EU-4 (Italy, Spain, France, and Germany), the United Kingdom, and Japan].
Additionally, the reports feature an examination of prominent companies working with their lead candidates in different stages of clinical development. Let's deep dive into the assessment of these blood disorders markets individually.
Immune thrombocytopenic purpura (ITP) is an autoimmune condition marked by a low platelet count, resulting in bruising and bleeding. It manifests as acute in children and chronic in adults. The primary treatments are corticosteroids, intravenous immunoglobulin (IVIg), and rituximab.
In the 7MM, the United States reported the highest prevalence of ITP, with nearly 66,500 cases in 2023. Primary ITP, which accounts for 80% of cases, occurs without any underlying diseases, while secondary ITP, making up about 20% of cases, is linked to conditions such as systemic lupus erythematosus (SLE), medications, infections, and other autoimmune diseases.
In immune thrombocytopenia, the initial treatment generally consists of corticosteroids, with prednisone prescribed at 1 mg/kg/day for 21-28 days, followed by a gradual taper. High-dose dexamethasone (40 mg/day for 4 days) may lead to a more pronounced platelet response. Intravenous immunoglobulin (IVIG) or intravenous anti-D (Rho[D] immune globulin) may be used as first-line options, particularly in urgent situations requiring quick platelet increases.
However, many adults experience relapses or do not respond to first-line therapy, necessitating second-line treatments. IVIG is effective in 70-80% of cases, and anti-D works in 50-70% of RhD-positive patients. Splenectomy is a well-established second-line option, though it carries risks such as infection and bleeding.
Rituximab, a monoclonal antibody that targets CD20, has shown strong efficacy both before and after splenectomy. Thrombopoietin-receptor agonists, such as romiplostim and eltrombopag, are also effective second-line treatments as they promote platelet production by activating the thrombopoietin receptor.
In the US, the approved treatments for ITP are DOPTELET, TAVALISSE, PROMACTA, and NPLATE. The EU market for thrombocytopenia is primarily driven by both approved and off-label therapies. In the EU, approved treatments include DOPTELET (avatrombopag), TAVALISSE/TAVLESSE (fostamatinib), PROMACTA/REVOLADE (eltrombopag), and NPLATE/Romiplate (romiplostim). RITUXAN is only approved in Japan for the treatment of ITP.
Learn more about the FDA-approved drugs for ITP @ Drugs for Immune Thrombocytopenic Purpura Treatment
As per DelveInsight analysis, in 2023, the total ITP market size in the 7MM was USD 3.1 billion. As per the estimates, PROMACTA (eltrombopag) achieved the highest revenue among all medications in the 7MM in 2023. The market is expected to show positive growth, mainly attributed to the increasing cases and also, the launch of upcoming therapies during the forecast period (2024–2034).
Immune Thrombocytopenic Purpura Pipeline Therapies and Key Companies
Rilzabrutinib (PRN-1008): Sanofi/Principia Biopharma
Mezagitamab (TAK-079): Millennium Pharmaceuticals/Takeda
Efgartigimod (ARGX-113): argenx
BT-595: Biotest
Dive deeper for rich insights into the Immune Thrombocytopenic Purpura Clinical Trials
Aplastic Anemia Market
Aplastic anemia is a rare and serious non-cancerous condition marked by the autoimmune destruction of early blood-forming cells. The global incidence varies from 0.7 to 7.4 cases per million people annually, with higher rates observed in Asia compared to Europe and the United States.
As per DelveInsight estimates, the total Incident population of aplastic anemia in the 7MM were around 2,500 cases in 2023. These cases are projected to increase during the forecast period. Based on severity, severe and very severe aplastic anemia patients contributed roughly 65%-80% of the total aplastic anemia patient population.
HSCT remains the standard treatment for patients under 40 years old, while Immunosuppressive Therapies (IST) are the preferred approach for patients aged 40 and above. In terms of pharmacological treatments, Novartis' PROMACTA/REVOLADE is currently the leading revenue driver, followed by ISTs across the 7MM.
According to Novartis, the primary revenue drivers for PROMACTA/REVOLADE are its use in patients with chronic immune thrombocytopenic purpura (ITP) and severe aplastic anemia (SAA). PROMACTA was first approved in 2014 for use in relapsed/refractory SAA patients in the United States, with approvals following in Europe in 2015 and Japan in 2017. However, it was approved for use as a first-line treatment in combination with ISTs like ATG in the US in 2018, which expanded treatment options for first-line patients and contributed to increased revenue.
The total aplastic anemia market size was found to be ~USD 270 million in 2023 in the 7MM, which is further expected to increase by 2034 due to several factors such as an increase in disease incidence in Asian countries, high patient uptake of PROMACTA (until expected patent expiry in 2025), approval of Teva Pharma's ALVAIZ in the US, and Kyowa Kirin's ROMIPLATE in Japan along with the expected launch of potential emerging therapies.
Aplastic Anemia Pipeline Therapies and Key Companies
For a comprehensive view of the aplastic anemia market, check out the Aplastic Anemia Market Assessment
Diamond-Blackfan Anemia Market
Diamond-Blackfan anemia (DBA) is a rare genetic condition that primarily disrupts the bone marrow's ability to produce red blood cells, resulting in severe anemia. It is typically diagnosed during infancy or early childhood and presents with symptoms such as pale skin, fatigue, stunted growth, and physical abnormalities, which may include thumb deformities or heart defects in certain cases.
In 2023, there were around 7,870 reported cases of Diamond-Blackfan anemia across the 7MM, with the United States accounting for about 70% of these cases. Within the US, approximately 46% of cases in 2023 were linked to mutations in the RPS19 gene, which plays a crucial role in ribosomal protein synthesis, contributing to its high prevalence in DBA.
Diamond-Blackfan anemia is frequently associated with several congenital anomalies, with craniofacial and musculoskeletal defects being the most common. Craniofacial abnormalities were noted in over 30% of DBA patients across the 7MM in 2023.
Although DBA has a significant impact on patient health, there are currently no FDA-approved treatments available for the condition. Treatment primarily involves corticosteroid combinations, chronic blood transfusions, iron chelation, and potentially curative hematopoietic stem cell transplantation (HSCT).
In 2023, the total market size for Diamond-Blackfan anemia was USD 1.56 million in the 7MM and is projected to increase by 2034. The United States represents the largest share of the Diamond Blackfan Anemia market, accounting for a significant proportion compared to the EU4 (Germany, Spain, Italy, France), the United Kingdom, and Japan.
In 2023, corticosteroids were the leading therapy for DBA, generating USD 1.1 million in revenue, making them the preferred first-line treatment option. Since there are no FDA-approved therapies available and no emerging companies are working to fill this gap, there is a significant opportunity for innovative treatments, like gene therapy, to make a meaningful difference and address the needs of DBA patients.
For a deeper understanding of the Diamond-Blackfan anemia market landscape, explore the Diamond-Blackfan Anemia Market Outlook
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