24 May 2022

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Polycythemia: A Disease of the Blood

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Academic level: College

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Polycythemia is a type of blood cancer that is slow-growing in an individual and leads to the production of red blood cells in the bone marrow. The excessive red blood cells created by the bone marrow thicken that blood and thus cause the blood flow to slow down. In addition, Polycythemia also causes several complications that include blood clots which can lead to health consequences such as the stroke and a blood clot (Vannucchi et al., 2015). The Polycythemia is not a common disease to many individuals and thus it very difficult to detect by the affected person. In essence, the disease usually develops slowly and can take several years before knowing. In many cases, the condition of Polycythemia is established during the blood test done for another person. Without adequate treatment, Polycythemia can be a life-threatening disease to an individual. As a result, it is important that a person suffering from this health condition gets appropriate medication to reduce its consequences. The proper medical care of the disease can help reduce its signs, complications, and symptoms. In some cases, Polycythemia can pose significant risks to progress to some serious blood cancers that can include acute leukemia and myelofibrosis. Due to the health risks that the diseases pose to individuals, it is important to get adequate treatment and medication. 

Causes of Polycythemia

Determining the causes of a disease can help provide important insight on how to prevent, control or treat the disease. The cause of Polycythemia is unique and different from other diseases such as the flu and cold. The disease is common in individuals with a gene known as JAK2 that does not properly work. The JAK2 gene that does not work properly allows the bone marrow to make too many red blood cells. Since the main purpose of JAK2 gene is to ensure that bone marrow does not make to any blood cells, JAK2 that malfunction can lead to the excess production of red blood cells by bone marrow (Tefferi & Barbui, 2015). The bone marrow is a tissue that is responsible for the manufacture of three different types of blood cells that include the red blood cells, the white blood cells, and the platelets. Each these three blood cells serve different purposes. The red blood cells are responsible for the transportation of oxygen, the white blood cells are responsible for fighting infections while the platelets are responsible for the blood clotting to stop bleeding.

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Majority of individuals with Polycythemia have too many red blood cells in their bodies. Besides, Polycythemia can also make an individual to have too many platelets and white blood cells. Although it is rare, Polycythemia can be passed from parents to children. However, the majority of the JAK2 gene problems happen over the course of an individual’s life. 

Polycythemia condition normally occurs when the mutation of a given gene cause a health problem in a person (Beale, 2017). The mutation in the gene can lead to the abnormal production of the blood cells. Typically, the body of an individual regulates the number of each of the three categories of blood cells. The presence of Polycythemia makes the bone marrow to make too many of given blood cells which result in various health consequences to the affected person. The research studies have indicated that the mutation that causes Polycythemia is thought to effects a protein switch that informs the cells to grow. The mutation specifically occurs in the protein known as Janus Kinase 2 (JAK2). Majority of people with the disease have these types of mutation. However, it is not well known what causes mutation but typically it is not hereditary. 

The Risks Factors

There are various risks factors associated with Polycythemia and can make an individual easily get the infection. One of the risk factors of the disease is the hypoxia from chronic or long-standing lung disease and smoking. The individuals who are smoking are likely to get infected by the diseases than the non-smokers. As a result, smoking can prove to be a significant risk factor for this health condition. 

Another risks factor for the disease is attributed to the age of individuals. The disease commonly affects people who are old. Although Polycythemia can affect young people, it is normally common in individuals aged 60 years and above (Vinchi, 2018). This means that there is a high likelihood for people with the age of 65 years to get infected with Polycythemia than younger people. In addition, the disease is more common in men than women and this means that men have high chances to contract the diseases as opposed to women. 

Symptoms and Complication of the Disease

Polycythemia may not show any sign and symptoms to the infected person thus it might prove difficult to detect. The diseases are often discovered when a test for red blood cell or hemoglobin count is performed. Some people with this disease experience certain signs and symptoms that can appear in gradual stages. These signs can include dizziness, bathing, flushing of hands and face, headaches, weaknesses, visual disturbance and a sense of fullness in the left upper abdomen and in the head (Shiji et al., 2018). The condition can also cause high blood pressure on individuals. 

An infant suffering from Polycythemia condition might develop habits such as feeding poorly. In addition, infants with the diseases can experience low blood pressure and experience difficulty in breathing. The Polycythemia condition is not a major concern for babies and often does not require treatment since it normally resolves within a few days. However, it is appropriate that a person visits a doctor upon identifying the symptoms associated with the disease. 

Another complication of the disease is the regular blood clots. As the blood increase to thicken and experienced a reduction in the flow, there is an increase in the chances of blood clots. The blood clots can eventually end up causing heart attack, stroke or blockage of the artery in the lungs or in veins. 

A person suffering from Polycythemia condition can also experience complication associated with the enlarged spleen. The spleen is an important organ that helps fight infections and filter some of the unwanted materials that damaged or old blood cells (Vinchi, 2018). The increased number of red blood cells in the body of a person makes the spleen to function harder than the normal and this cause it to enlarge. 

The other complication associated with the Polycythemia is due to the high levels of the red blood cells. When there are too many red blood cells in the body organs, various complications can arise that include open sores located in the lining of the stomach, the upper small intestines and inflammation in the joints. Other blood disorders are also a common complication for people suffering from Polycythemia condition. Some of these blood disorders can include progressive disorder where the bone marrow is replaced with a scar tissue. 

Making the Diagnosis

In order to diagnose the Polycythemia, the doctor will start by discussing the health history of the patient and performing physical examinations to the patients. During the physical examination, the doctor will check there if there is evidence of lung blood flow or low brain by asking the patients questions such as symptoms. In addition, the doctor will look for the physical sign that includes increased blood pressures, blood volume, dilated veins, and some ruddy complexion. If the skin is found to be itchy or flushed, especially after birth, it may be a sign of Polycythemia infection. 

The doctor can also check the history of smoking or drug and alcohol abuse. Besides, it is important to assess the history of patients especially with regards to kidney infections. Observation should also be made to determine various health conditions such as obesity, high blood pressure, lack of oxygen, and abnormal noise. This implies that various blood test should be conducted by the doctor. 

After examination and confirmation of the Polycythemia infection, an additional test should be done to establish whether it is Polycythemia Vera of secondary Polycythemia (Beale, 2017). The additional test can probably include physical and history examination, assessing the saturation of the oxygen and complete blood test. Bone marrows test can also be recommended to some patients as well as the blood test to identify a mutation within the protein known as JAK2. 

Treatment Polycythemia

To reduce the risks associated with blood clots, it is recommended that the patients be treated with a low dose acetylsalicylic acid. Another common treatment method of the disease is known as phlebotomy which is the removal of the small amounts of blood. The blood removed from this process often ranges between 300 ML to 500mL after every few days and gradually after every few weeks and later after every few months (Tefferi & Barbui, 2015). The aim of this treatment is to ensure that there is no excess accumulation of blood cells produced by the bone marrow. Other medication can be used depending on the condition of the patients and the nature of the disease. In essence, the doctor will consider many factors when administering the appropriate treatment for the disease. 

References

Beale, C. (2017). Case Report on Feline Polycythemia Vera. Open Journal of Veterinary Medicine , 7 (01), 1.

Shiji, P. V., Narayanan, S., & Niyaz, K. C. (2018). Polycythemia Rubra Vera Presenting as Unilateral Clubbing Due to Left Subclavian Artery Thrombosis. Journal of The Association of Physicians of India , 66 , 90.

Tefferi, A., & Barbui, T. (2015). Polycythemia vera and essential thrombocythemia: 2015 update on diagnosis, risk‐stratification, and management. American journal of hematology , 90 (2), 162-173.

Vannucchi, A. M., Kiladjian, J. J., Griesshammer, M., Masszi, T., Durrant, S., Passamonti, F., ... & He, S. (2015). Ruxolitinib versus standard therapy for the treatment of polycythemia vera. New England Journal of Medicine , 372 (5), 426-435.

Vinchi, F. (2018). Toward a Novel Therapeutic Option for Polycythemia. hemisphere , 2 (4), e139.

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StudyBounty. (2023, September 17). Polycythemia: A Disease of the Blood.
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