Essential thrombocythemia: 2024 update on diagnosis, risk stratification, and management
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.
Top 5 Most-Read Articles On Rare Blood Disorders In 2024
Key findings from 2024 focused on conditions like vaccine-induced immune thrombotic thrombocytopenia, immune thrombocytopenia, and hemophilia, stressing the importance of early detection and innovative therapies.
As research into rare blood disorders advances, 2024 has seen research illuminate the challenges and breakthroughs in diagnosis and treatment. Key findings focused on conditions like vaccine-induced immune thrombotic thrombocytopenia (VITT), immune thrombocytopenia (ITP), and hemophilia, stressing the importance of early detection and innovative therapies. Additionally, disparities in health outcomes for populations such as those with sickle cell disease (SCD) have come to the forefront.
The top 5 most-read articles related to rare blood disorders in 2024.
Image Credit: angellodeco - stock.Adobe.Com
Read more about 2024's top 5 most-read articles related to rare blood disorders.
5. Managing Rare Thrombotic Events Following COVID-19 Vaccination
This year, research has highlighted the importance of early identification and treatment of rare hematologic events, such as VITT and ITP, following COVID-19 vaccination. Investigators reviewed 9 cases of new-onset thrombocytopenia occurring 4 to 42 days post vaccination with Pfizer-BioNTech, Moderna, or AstraZeneca vaccines. Findings exhibited the role of diagnostic tests for heparin-induced thrombocytopenia (HIT) like HIT serotonin release assay in confirming VITT. They outlined treatment approaches, including corticosteroids, nonheparin anticoagulation, and intravenous immunoglobulin. Long-term outcomes varied, with some patients requiring prolonged hospitalization and complex interventions. Most patients continued with subsequent mRNA vaccinations, although the study acknowledged the need for more research into the ongoing management of VITT and ITP, particularly in refractory cases.
Read the full article.
4. Myeloid Panel Analysis Imperative for Risk Assessment in Patients With CCUS
Mutational analysis for patients with clonal cytopenia of undetermined significance (CCUS) who have undergone bone marrow examinations was supported by data from the Lancet Haematology. Findings suggested that identifying mutation profiles and high-risk mutations can better predict disease progression and enable earlier interventions. Researchers conducted a prospective study of over 2000 patients, revealing that 41.1% carried somatic mutations. Patients with CCUS were found to have distinct genetic mutations, such as TET2 and SRSF2, while mutations like SF3B1 and ASXL1 were more common in those progressing to myelodysplastic syndrome. The number of mutations can significantly predict progression to myeloid malignancies, with certain mutations, including TP53 and ASXL1, linked to worse survival outcomes, supporting the need for early detection and expanded genetic panels to optimize patient management.
Read the full article.
3. FDA Approves Marstacimab, First Weekly Sub-Q Option for Hemophilia B
In October, the first subcutaneous therapy for hemophilia B was approved by the FDA, offering a significant advancement in bleeding prevention for patients with hemophilia A or B without inhibitors. Marstacimab (Hympavzi) reduces the treatment burden of frequent intravenous infusions via weekly administration with its autoinjected pen. The therapy effectively decreased annualized bleeding rates by 35% compared with routine prophylaxis and 92% compared with on-demand treatment, based on phase 3 BASIS trial results. Developed by Pfizer, marstacimab targets the tissue factor pathway inhibitor to improve clotting and is priced at $795,600 annually, comparable to other hemophilia therapies. Experts and advocacy groups have praised the therapy for its potential to enhance quality of life.
Read the full article.
2. Immunosuppressive Therapies Shown to Significantly Impact Remission in Acquired Hemophilia A
Immunosuppressive therapies (ISTs) demonstrated efficacy in achieving complete remission (CR) in patients with acquired hemophilia A (AHA), a rare bleeding disorder caused by neutralizing antibodies against factor VIII (FVIII). The investigation, involving 165 patients, revealed that IST, particularly rituximab-based regimens, achieved CR rates up to 93.3%, with bleeding controlled in over 80% of cases using hemostatic therapies like prothrombin complex concentrate or recombinant activated FVII. However, higher FVIII inhibitor titers (≥ 15 BU/mL) and bleeding scores of 6 or more were linked to poorer IST responses, emphasizing their prognostic value. Despite AHA's rarity and diagnostic challenges, the findings exhibit the potential of IST in managing AHA and call for larger, multicenter studies to refine treatment approaches and improve outcomes.
Read the full article.
1. COVID-19 Vaccination Rates Far Lower in Patients With SCD Compared With General Population
COVID-19 vaccination completion rates among patients with SCD were found to be significantly lower than those without SCD, with only 33.5% of SCD patients completing their vaccinations compared with over 61% of the general population. The research findings exhibit the increased vulnerability to severe infections of patients with SCD due to the disease's effects on the immune system, particularly concerning the spleen's function. Researchers analyzed data from the Michigan Care Improvement Registry and the Michigan Sickle Cell Data Collection program, identifying a total of 3424 individuals with SCD. The vaccination rates increased with age for both groups, and significant age-related differences in immunization completion were noted. The study stated the need for further research to understand vaccination perspectives among this population and to develop strategies to improve their vaccination rates to reduce COVID-19–related morbidity and mortality.
Read the full article.
Diverticular Disease
Diverticular disease consists of three conditions that involve the development of small sacs or pockets in the wall of the colon, including diverticulosis, diverticular bleeding, and diverticulitis.
Diverticulosis is the formation of numerous tiny pockets, or diverticula, in the lining of the bowel. Diverticula, which can range from pea-size to much larger, are formed by increased pressure on weakened spots of the intestinal walls by gas, waste, or liquid. Diverticula can form while straining during a bowel movement, such as with constipation. They are most common in the lower portion of the large intestine (called the sigmoid colon).
Diverticulosis is very common and occurs in 10% of people over age 40 and in 50% of people over age 60. Most people will have no or few symptoms from diverticula.
Complications can occur in about 20% of people with diverticulosis. One of these complications is rectal bleeding, called diverticular bleeding, and another is diverticular infection, called diverticulitis.
Diverticular Bleeding
Diverticular bleeding occurs with chronic injury to the small blood vessels that are next to the diverticula.
Diverticulitis
Diverticulitis occurs when there is inflammation and infection in one or more diverticula. This usually happens when outpouchings become blocked with waste, allowing bacteria to build up, causing infection.
Diverticulosis does not cause any troublesome symptoms.
Diverticulitis, infection and inflammation of diverticula, can occur suddenly and without warning.
Symptoms of diverticulitis may include:
Because people with diverticulosis do not have any symptoms, it is usually found through tests ordered for an unrelated reason. They usually include barium enema, sigmoidoscopy and colonoscopy.
If you are experiencing the symptoms of diverticulitis, it is important to see your doctor.
Your doctor will ask questions about your medical history (such as bowel habits, symptoms, diet, and current medications) and perform a physical exam, possibly including an abdominal exam.
One or more diagnostic tests may be ordered. Tests usually include blood tests and CT scanning.
In people with rapid, heavy rectal bleeding, the doctor may order a colonoscopy to locate the source of the bleeding.
People who have diverticulosis without symptoms or complications do not need specific treatment, yet it is important to adopt a high-fiber diet to prevent the further formation of diverticula.
Laxatives should not be used to treat diverticulosis and enemas should also be avoided or used infrequently.
Serious complications can occur as a result of diverticulitis. Most of them are the result of the development of a tear or perforation of the intestinal wall. If this occurs, intestinal waste material can leak out of the intestines and into the surrounding abdominal cavity causing the following problems:
If an abscess is present, the doctor will need to drain the fluid by inserting a needle into the infected area. Sometimes surgery is needed to clean the abscess and remove part of the colon. If the infection spreads into the abdominal cavity (peritonitis), surgery is needed to clean the cavity and remove the damaged part of the colon. Without proper treatment, peritonitis can be fatal.
Infection can lead to scarring of the colon, and the scar tissue may cause a partial or complete blockage. A partial blockage does not require emergency surgery. However, surgery is required with complete blockage.
Another complication of diverticulitis is the formation of a fistula. A fistula is an abnormal connection between two organs, or between an organ and the skin. A common type of fistula is between the bladder and colon. This requires surgery to remove the fistula and affected part of the colon.
To prevent diverticular disease or reduce the complications from it, maintain good bowel habits. Have regular bowel movements and avoid constipation and straining. Eating appropriate amounts of the right types of fiber and drinking plenty of water and exercising regularly will help keep bowels regulated.
The American Dietetic Association recommends 20 to 35 grams of fiber a day. Every person, regardless of the presence of diverticula, should try to consume this much fiber every day. Fiber is the indigestible part of plant foods. High-fiber foods include whole grain breads, cereals, and crackers; berries; fruit; vegetables, such as broccoli, cabbage, spinach, carrots, asparagus, squash, and beans; brown rice; bran products; and cooked dried peas and beans, among other foods.
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