Your blood is gold! Learn about components of blood and symptoms and treatment of blood disorders

An adult human body contains approximately 5 liters of blood, which contains different metals such as iron, chromium, and zinc, as well as about 0.2 milligrams of gold [1]! Human blood is essential to life as it transports oxygen and nutrients, collects waste products, delivers immune cells throughout the body, and forms clots during injury to prevent blood loss. Since blood has a vital role in maintaining healthy body function, disorders that affect the blood can have serious consequences and affect our overall health. 

What are blood disorders?

Blood disorders are conditions that affect either the red blood cells (RBCs), the white blood cells (WBCs), the platelets, or the liquid portion of the blood called plasma. People diagnosed with a blood disorder have different symptoms ranging from mild to severe and varying prognoses depending on the part of blood that is affected and the specific disorder. 

Red blood cell disorders

RBC disorders are disorders with impaired function and production of RBCs. RBCs, which are produced in the bone marrow, are one of the main components of blood. Their main role is the transportation of oxygen from the lungs to the rest of the body, and of carbon dioxide from the rest of the body back to the lungs so it can be removed during exhalation [2].

RBC disorders are categorized based on the structure that is affected. The most common category is haemoglobinopathies, a group of hereditary conditions that affect hemoglobin, the protein inside the RBCs responsible for oxygen transportation. Hemoglobin is also the reason for the red color of the blood [3]. Haemoglobinopathies include conditions such as iron deficiency anemia, sickle cell disease, and thalassemias (alpha and beta thalassemia). Other category examples are cytoskeletal abnormalities, such as hereditary spherocytosis and elliptocytosis, that affect the structure or permeability of the cells and their membranes, and enzymopathies, a group of conditions that affect the production of RBC enzymes, such as glucose-6-phosphate dehydrogenase deficiency and pyruvate kinase deficiency [4].

Symptoms of red blood cell disorders

While symptoms vary between RBC disorders, many disorders share similar symptoms such as fatigue, muscle weakness, headaches, dizziness, and lack of energy, mostly caused by the lack of oxygen due to not having enough healthy RBCs to carry the oxygen around the body. 

Treatment of red blood cell disorders

Treatment options vary depending on the specific type of RBC disorder. Some treatment options include the intake of nutritional supplements such as iron or vitamin B12 for iron deficiency anemia and vitamin B12 deficiency anemia, respectively, and hydroxyurea therapy for sickle cell disease patients. Blood transfusion can also be an option for disorders such as anemia and sickle cell disease, to increase the number of healthy RBCs, thus increasing hemoglobin, iron levels, and the amount of oxygen in the blood [5].

White blood cell disorders

WBC disorders are disorders with impaired function and production of WBCs. WBCs, also called leukocytes, are another main component of the blood. They are produced in the bone marrow and can be found in the blood and lymph tissue. WBCs are also a part of the immune system and consist of different types of cells, each of them having a different role. Neutrophils are WBCs that attack and kill bacteria, fungi, and foreign debris; lymphocytes protect against viruses and produce proteins to fight infections; eosinophils target and destroy parasites and cancer cells; basophils are involved in allergic response; and monocytes surround and kill microorganisms and remove dead cells [6].

WBC disorders can be categorized into leukocytosis or proliferative disorders, and leukopenia. Leukocytosis occurs when there is an increased number of WBCs in the circulation usually as the result of an inflammation or an infection, or less commonly, due to blood cancer. Leukopenia occurs when there is a reduced number of WBCs in the circulation because of infections, medication, bone marrow or autoimmune disorders, or nutritional deficiencies. There are different types of leukocytosis and leukopenia depending on the affected WBCs.

Symptoms of white blood cell disorders

While symptoms vary between WBC disorders, common symptoms for most WBC disorders include fatigue, fever, and in the case of a malignant cause of leukocytosis, weight loss. Other symptoms include chronic infections, invasive infections, skin abscesses, difficulty breathing, and loss of appetite [7, 8]. Most symptoms are caused by the inability of the WBCs to function properly, meaning that a weakened immune system cannot properly fight off infections and microorganisms that inhibit overall health.

Treatment of white blood cell disorders

Treatment for WBC disorders varies depending on the underlying condition and its severity. Most common treatments include antibiotics, to assist the immune system in fighting off an infection, stimulation of the bone marrow with abrasion arthroplasty, debridement and drilling or microfracture to produce more WBCs, and bone marrow/stem cell transplantation for severe congenital disorders, to help restore the ability to create WBCs.

Platelet disorders

Platelet disorders occur when the production of platelets in the blood is too low (thrombocytopenia), too high (thrombocytosis), or when the functionality of the platelets is impaired [9]. Platelets are small blood cell fragments that are also produced in the bone marrow. They are responsible for clot formation during bleeding, to prevent or stop blood loss. 

Symptoms of platelet disorders

Symptoms of platelet disorders may not appear if the number of platelets is not significantly affected. Thrombocytopenia symptoms could include easy bruising, abnormal or uncontrollable bleeding such as frequent nose bleeds, blood present in urine or stool, and fatigue. Thrombocytosis symptoms include headaches, chest pain, nausea, shortness of breath, and weakness. Another common symptom of platelet disorders is the unprovoked formation of blood clots within the blood vessels, which could potentially lead to obstruction of blood flow [10]. Severe platelet disorders can lead to uncontrollable bleeding, stroke, and complications during pregnancy.

Treatment of platelet disorders

Treatment of platelet disorders includes medication that targets the production of platelets to either increase or decrease their numbers accordingly and reduce the risk of severe bleeding or blood clot formation. For more severe conditions, procedures such as platelet transfusion, bone marrow transplantation, and plasma infusion may be considered [10].

Plasma disorders

Plasma is the liquid portion and the largest part of the blood, making up about 55% of the whole blood. Plasma is often ‘forgotten’ as a blood element, but it plays a significant role as among other things it carries nutrients, proteins, and hormones around the body, and removes waste from the cells. Plasma is liquid as its composition is 92% water, which enables the rest of the blood components to move around the body [11]. There are various blood disorders that inhibit the functionality of blood plasma. These include hemophilia A and B and von Willebrand disease where the blood fails to form clots to stop the bleeding, deep vein thrombosis where there is clot formation within the blood vessel that obstructs the flow, and multiple myeloma, a rare blood cancer that affects the plasma [12].

Symptoms of plasma disorders

Symptoms of plasma disorders include bone aches, bruising or bleeding, arrhythmias, and an overall weakened immune system. 

Treatment of plasma disorders

Treatment options based on symptoms and predisposing conditions that lead to plasma disorders include antibiotics, steroids, blood transfusion, stem cell transplant, and chemotherapy [13].

How are blood disorders diagnosed?

Diagnosis of any blood disorder starts with a physical examination and assessment of symptoms, followed by medical and family history, and several blood tests.

For RBC disorders, a RBC count is usually carried out. Additional tests might include measuring levels of hemoglobin in the blood called a hemoglobin test, measuring the volume percentage of RBCs in the blood known as hematocrit, or the number of developing RBCs known as reticulocyte count.

For WBC disorders, a complete blood count might be carried out along with an evaluation of the number of each WBC type.

Where a platelet disorder is suspected, a platelet count, a mean platelet volume, or a peripheral blood smear can be performed.

Causes of blood disorders

Some blood disorders are caused by genetic changes in the DNA. When these genetic changes are passed down from carrier parents to their children, they cause inherited blood disorders. Even though inherited blood disorders are considered rare, over 20 million people worldwide suffer from such disorders [14]. Some inherited blood disorders include

• Hemophilia A
• Hemophilia B
• Alpha thalassemia
• Beta thalassemia
• Sickle cell disease
• Fanconi anemia
• Thrombophilia
• Von Willebrand disease
• Hereditary spherocytosis

People with inherited blood disorders are treated based on symptoms but may still struggle to function in their everyday lives because of them and complications that may occur.

Some inherited blood disorders have overlapping symptoms with various other conditions. For example, shortness of breath is a symptom of both inherited blood disorders, due to a lack of healthy RBCs available to carry oxygen around the body, and lung disease. Without a definite diagnosis, the healthcare provider might assume that shortness of breath is due to a lung disease and turn their focus to treating the lungs instead of the blood. Accurate identification of the disorder through genetic testing plays a significant role in risk assessment and clinical management and can guide treatment decisions [15].

Genetic testing can also identify at-risk family members for the same inherited blood disorder and prevent or minimize any potential complications through cascade screening. A great example of this is people with undiagnosed hemophilia who are not presenting any symptoms but are in danger of bleeding episodes that might cause irreversible damage and even result in death. The US National Hemophilia Foundation suggests that genetic testing will provide information that will allow doctors to refine a diagnosis, predict the disorder severity, identify carriers, and assist with birth planning in women who are known to have hemophilia, thus preventing them from suffering life-threatening complications when giving birth [15].

Blood disorders can also occur because of other diseases, medication, and poor nutrition.

Conclusion

From oxygenating cells to supporting the immune system, blood is essential for many bodily functions. Taking care of our blood health through proper diet and exercise should be a priority for everyone, especially when there is a family history of blood disorders. With genetic testing, healthcare providers can be on top of situations and advise patients accordingly so that blood disorders do not manifest into serious health conditions. Finally, remember the importance of donating blood. Whether it is red or white blood cells, platelets or plasma that is needed, blood donation is one of the most important treatments available: just one donation can save up to three lives!

References

[1] Emsley, John. Nature’s Building Blocks: An A-Z Guide to the Elements. Oxford University Press, 2011, pp. 202
https://www.google.com.cy/books/edition/_/2EfYXzwPo3UC?hl=en&gbpv=0

[2] Barbalato L, Pillarisetty LS. “Histology, Red Blood Cell”. [Updated 2022 Nov 14]. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2023 Jan. Available from: https://www.ncbi.nlm.nih.gov/books/NBK539702/

[3] Association of Public Health Laboratories [ (APHL) ]. Hemoglobinopathies: Current Practices for Screening, Confirmation and Follow-up. Association of Public Health Laboratories, 2015, www.cdc.gov/ncbddd/sicklecell/documents/nbs_hemoglobinopathy-testing_122015.pdf.

[4] Johnson, Jon. “What to Know About Red Blood Cell Disorders.” Medical News Today, 10 Nov. 2021, www.medicalnewstoday.com/articles/red-blood-cell-disorders-types-causes-and-symptoms.

[5] “Red Blood Cell Disorders.” Boston Children’s Hospital, www.childrenshospital.org/conditions/red-blood-cell-disorders.

[6] “Function of White Blood Cells.” Cleveland Clinic, 23 Jul. 2021 https://my.clevelandclinic.org/health/body/21871-white-blood-cells.

[7] Macon, Brindles Lee. “Blood Diseases: White and Red Blood Cells, Platelets and Plasma.” Healthline, 29 Sept. 2018, www.healthline.com/health/blood-cell-disorders.

[8] “White Blood Cell Disorders” Boston Children’s Hospital, www.childrenshospital.org/conditions/white-blood-cell-disorders.

[9] “What Are Platelets and Why Are They Important?” Johns Hopkins Medicine, 10 Jan. 2022, www.hopkinsmedicine.org/health/conditions-and-diseases/what-are-platelets-and-why-are-they-important.

[10] “What Are Platelet Disorders?” NIH National Heart Lund Blood Institute, 24 Mar. 2022, www.nhlbi.nih.gov/health/platelet-disorders.

[11] Mathew J, Sankar P, Varacallo M. “Physiology, Blood Plasma.” [Updated 2023 Apr 24]. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2023 Jan-. Available from: https://www.ncbi.nlm.nih.gov/books/NBK531504/

[12] Hoffman, Matthew. “Types of Blood Disorders.” WebMD, 10 Aug. 2010, www.webmd.com/cancer/lymphoma/blood-disorder-types-and-treatment.

[13] “Plasma.” Cleveland Clinic, 27 Apr. 2022
https://my.clevelandclinic.org/health/body/22865-plasma

[14] Alliance for Regenerative Medicine. “Regenerative Medicine and Inherited Blood Disorders.” Alliance for Regenerative Medicine (ARM), edited by Informa, Apr. 2019, http://alliancerm.org/wp-content/uploads/2019/04/Inherited-Blood-Disorders-Report-FINAL.pdf Accessed 10 June 2023.

[15] “MASAC Document 273 – Recommendations on Genotyping for Persons With Hemophilia | National Hemophilia Foundation.” National Hemophilia Foundation, 6 July 2022, www.hemophilia.org/healthcare-professionals/guidelines-on-care/masac-documents/masac-document-273-recommendations-on-genotyping-for-persons-with-hemophilia.