Red blood cell disorders: What you need to know

Red blood cell diseases are medical problems that affect the amount or function of red blood cells in the bloodstream. RBCs, also known as erythrocytes, are concave, disc-shaped cells that transport oxygen throughout the body through blood arteries.

One of the most important components of the blood is red blood cells (RBCs). They are one of the most common cell kinds. Every second, the human body creates around 2 million RBCs, which are responsible for the blood’s distinctive red color. They are responsible for transporting oxygen from the lungs to the rest of the body as well as returning carbon dioxide to the lungs for exhalation.

RBC diseases encompass a wide range of problems that impact the production, components, and abilities of RBCs. RBC dysfunction can cause a variety of problems in the body.

While each disorder has its own set of symptoms, many of them are similar. Detecting and treating RBC problems as soon as feasible may assist to lessen or control symptoms while also lowering the risk of consequences.

We’ll go through some of the most prevalent RBC disorders in this post.

Definition of red blood cell diseases

red blood cell disorders

RBC disorders are diseases that affect the red blood cells (RBCs), which transport oxygen from the lungs to the rest of the body. RBC diseases may be classified by the type of structure they impact, according to health professionals.

Types

Hemoglobinopathies

Hemoglobinopathies are diseases that affect the hemoglobin protein in red blood cells. Hemoglobin is an iron-rich substance that gives cells their red hue. Hemoglobinopathies result in aberrant hemoglobin synthesis or structural changes. Hemoglobinopathies include the following conditions:

  • sickle cell anemia
  • thalassemia
  • hemoglobin C disease
  • hemoglobin S-C disease

Cytoskeletal abnormalities

Conditions that alter the structure or permeability of the RBC or its membranes are referred to as cytoskeletal abnormalities in RBCs. RBC membranopathies is another term used by doctors to describe these conditions. Hereditary spherocytosis and elliptocytosis are examples of cytoskeletal disorders.

Enzymopathies

RBC enzymopathies are genetic disorders that impact RBC enzyme synthesis and cell metabolism. Glucose-6-phosphate dehydrogenase deficiency and pyruvate kinase deficiency are two RBC diseases that involve enzyme deficiencies.

Symptoms of RBC disorders

RBC disorders have a wide range of symptoms, depending on the kind, severity, and way they affect the cells. Some symptoms may overlap because these illnesses influence the function of RBCs. The following are some of the symptoms that may emerge as a result of different RBC disorders:

  • weakness
  • fatigue
  • shortness of breath
  • feeling faint when standing up too quickly
  • rapid heartbeat
  • trouble focusing
  • tingling or numbness in the hands or feet
  • jaundice¬†or yellowing of the skin

Anemias

Anemia is a condition in which a person’s red blood cells (RBCs) are insufficiently healthy. This can occur as a result of changes in the cell’s structure or components, such as hemoglobin. Different varieties of anemia exist, each with its own set of reasons.

Iron deficiency anemia

Iron deficiency anemia can be caused by a lack of iron in the diet or blood loss owing to conditions like heavy menstruation. Blood loss from internal bleeding in the gastrointestinal system or cancers are more dangerous causes.

Pernicious anemia

Pernicious anemia is an uncommon illness in which the body has problems using vitamin B-12, which is necessary for the formation of red blood cells. This might be related to a weakening of the stomach lining, which produces cells that attach to vitamin B-12 so that it can be digested by the intestines.

Aplastic anemia

When the body stops making enough new blood cells, aplastic anemia develops. This can occur when the bone marrow, which produces blood cells, is damaged. Aplastic anemia can be present from birth or develop after marrow injury from therapies like chemotherapy, radiation, or other harmful substances.

Sickle cell anemia

A kind of sickle cell disease is sickle cell anemia. Blood cells with sickle cell disease are malformed and die too soon. This results in a scarcity of RBCs, as well as other complications such as cells having trouble passing through blood arteries.

Sickle cell disease is a genetic disorder. Sickle cell disease comes in a variety of forms, depending on the features a person receives from their parents. HbSS, or sickle cell anemia, is a more severe type of sickle cell disease.

Autoimmune hemolytic anemia

Autoimmune hemolytic anemia (AHA) is a set of autoimmune illnesses in which the immune system targets and kills its own red blood cells (RBCs), resulting in a lack of RBCs in the body.

There is no recognized reason for certain occurrences of AHA. Some occurrences are associated with immune system disorders such as leukemia, lupus, or mononucleosis. AHA can be acquired after using some drugs, such as penicillin.

Spherocytosis

Spherocytosis is a disorder in which the body produces aberrant RBCs that are rounder and more spherical than a typical RBC’s healthy disc shape. The blood cells become more fragile and prone to breaking as a result of this.

Hemolytic anemia is a kind of spherocytosis. It is hereditary, meaning it is passed on from one generation to the next through genetic mutations.

Hereditary nonspherocytic hemolytic anemia (HNHA)

HNHA is a kind of anemia that is hereditary and causes RBCs to dissolve faster than normal healthy blood cells. There are a variety of hereditary mutations that might lead to alterations in the genes that cause the disease.

Thalassemia

Thalassemia is a blood disorder that impairs the body’s capacity to manufacture hemoglobin and red blood cells (RBCs). As a result, a person’s healthy RBCs are likely to be reduced. Thalassemia is a disorder that is handed down through the generations. There are several forms of thalassemia, depending on which features are passed on from parents to their offspring.

Polycythemia

Polycythemia, also known as erythrocytosis, is a disorder in which the body’s RBC count is abnormally high. The excess blood cells can thicken the blood and cause problems with blood flow, increasing the risk of various health problems.

Polycythemia is classified as either primary or secondary. Primary polycythemia, often known as polycythemia vera, is a kind of blood cancer that grows slowly. It usually causes an increase in white blood cells and platelets as well. Secondary polycythemia, also known as erythrocytosis, can be caused by a variety of factors, including:

  • smoking
  • steroid use
  • chronic oxygen deficiency in the arteries
  • some types of tumors

Malaria

Malaria is a disease caused by a parasite that infects certain mosquito species. Malaria can cause serious illness, including anemia, since the parasite attacks and kills red blood cells (RBCs).

The parasite can be transmitted to humans by infected mosquitos. It might also transmit through other shared blood sources, such as blood transfusions, shared needles, or from a mother to her baby after delivery.

Conclusion

RBC disorders are diseases that impact the function of red blood cells (RBCs), which are responsible for carrying oxygen throughout the body. Because RBC problems impact the body’s red blood cells, they may share symptoms including weakness, exhaustion, and shortness of breath.

RBC problems come in a variety of forms and are caused by a variety of factors. Hematologists, who specialize in identifying and treating blood diseases, may be referred by a healthcare practitioner.

Sources

  • https://www.hematology.org/education/patients/blood-basics
  • https://pubmed.ncbi.nlm.nih.gov/29803284/
  • https://rarediseases.info.nih.gov/diseases/6639/hereditary-spherocytosis
  • https://www.medicalnewstoday.com/articles/red-blood-cell-disorders-types-causes-and-symptoms
  • https://www.cdc.gov/ncbddd/sicklecell/documents/nbs_hemoglobinopathy-testing_122015.pdf
  • https://labtestsonline.org/tests/hemoglobinopathy-evaluation
  • https://www.blood.co.uk/the-donation-process/after-your-donation/how-your-body-replaces-blood/
  • https://www.sciencedirect.com/science/article/pii/S0006497120617190
  • https://rarediseases.info.nih.gov/diseases/7514/pyruvate-kinase-deficiency
  • https://www.redcrossblood.org/donate-blood/dlp/red-blood-cells.html
  • https://www.childrenshospital.org/conditions-and-treatments/conditions/r/red-blood-cell-disorders
  • https://www.hopkinsmedicine.org/health/conditions-and-diseases/red-blood-cell-disorders
  • https://www.frontiersin.org/articles/10.3389/fphys.2020.00636/full