What is Poikilocytosis?
Poikilocytosis describes a condition where the shapes of red blood cells (RBCs) in your blood are not normal. Typically, RBCs, also referred to as erythrocytes, are shaped like discs that are thinner in the middle than at the edges. They usually measure about 6.2 to 8.2 micrometers in diameter, and they are about 2 to 2.5 micrometers thick at their thickest point and 0.8 to 1 micrometer thick in the center.
In the case of Poikilocytosis, the proportion of these abnormally-shaped RBCs increases to 10% or more of the total red blood cells. These abnormal cells, known as poikilocytes, can take various forms. They may be flat, elongated, shaped like a teardrop or crescent, possess needle-like projections, or have other unusual features. Detecting these abnormal cells can give doctors clues, similar to a ‘fingerprint’, that help them recognize the specific disease causing the change in cell shapes.
What Causes Poikilocytosis?
Poikilocytosis refers to having abnormally shaped red blood cells in your blood. This can happen due to internal damage or environmental trauma. These irregularly shaped cells can either be inherited, meaning they come from your parent’s genetic makeup or acquired, which means they develop later in life.
Inherited instances of irregularly shaped red blood cells can include things like:
– Sickle cell anemia, where red blood cells turn into a crescent or sickle shape.
– Thalassemia, a genetic disorder that creates abnormal hemoglobin in the blood, resulting in target cells (red blood cells that have rings of hemoglobin around a central pallor).
– Hereditary spherocytosis, a condition that causes round red blood cells.
– Pyruvate kinase deficiency, which causes spiky red blood cells called echinocytes.
– Hereditary elliptocytosis, a condition that causes oval-shaped blood cells.
– McLeod syndrome, a rare genetic disorder that produces irregularly spiky cells, known as acanthocytes.
Acquired instances of irregularly shaped red blood cells can include:
– Iron deficiency anemia, which results in oval blood cells.
– Megaloblastic anemia where a lack of either folate or vitamin B-12 causes teardrop-shaped or oval cells.
– Autoimmune hemolytic anemia, bringing about fragments of red blood cells and round cells.
– Both liver and kidney disease cause spiky red blood cells (echinocytes).
– Alcohol-related liver disease produces irregularly spiky cells (acanthocytes).
– Myelofibrosis also causes tear drop cells.
– Lead poisoning and infections can also result in poikilocytosis.
The type of irregularly shaped red blood cells can point to specific causes:
– Round cells (spherocytes) can be seen in several conditions like hereditary spherocytosis, autoimmune hemolytic disorders, certain newborn diseases, and more.
– Target cells (codocytes) are often observed in thalassemia, liver disease, and iron deficiency disorder.
– Sickle cells are common in sickle cell disease.
– Teardrop cells (dacrocytes) can be seen in various conditions like beta-thalassemia, leukemia, and myelofibrosis.
– Spiky cells (acanthocytes) are seen in several conditions like liver disease, thalassemia, and Mcleod syndrome.
– Fragmented cells (schistocytes) are seen in conditions like sepsis and burns.
– Oval cells (elliptocytes) are common in iron deficiency anemia, thalassemia, and myelofibrosis.
– Spiky cells (echinocytes) can be observed in conditions like pyruvate kinase deficiency and cancer.
– Other unusual types of cells can appear in the blood, such as leukocytes, stomatocytes (mouth-shaped cells), and degmacytes (bite cells).
Risk Factors and Frequency for Poikilocytosis
Poikilocytosis, the medical term for having abnormally shaped red blood cells, can be caused by several different things. These causes can affect different populations across the world:
- Sickle cell disease: This is an inherited condition that is most common in parts of Africa, the Mediterranean, the Middle East, and India. It’s passed down through families, which means both parents have to carry the gene for a child to be affected.
- Thalassemias: There are two types of thalassemia, alpha and beta. Alpha thalassemia is more common in sub-Saharan Africa, the Mediterranean, and other tropical areas. Beta thalassemia is typically seen in the Mediterranean.
- Hereditary spherocytosis: This is most common in people of European and North American descent.
- Pyruvate kinase deficiency: This is most frequently seen in northern Europe and Japan.
Signs and Symptoms of Poikilocytosis
Poikilocytosis is a condition in which red blood cells (RBCs) are irregular in shape. As a result, they may not be able to transport enough oxygen. Symptoms that can appear include fatigue, pale skin, breathlessness, heart palpitations, and weakness. The key characteristic of poikilocytosis is that 10% or more of the RBCs are abnormally shaped. Certain external factors can worsen the symptoms of this condition, often seen in diseases like sickle cell. Sickle cell disease can cause episodes called crises, acute chest syndrome, and ‘autosplenectomy’ when exposed to cold temperatures, dehydration, or low oxygen environments.
Another condition related to poikilocytosis is anemia, which can be due to increased red cell destruction inside the blood vessels. This can lead to a condition called hyperbilirubinemia that can make the skin and the whites of the eyes look yellow (jaundiced), and can also cause the urine to change color. However, diagnosing this can be challenging as the symptoms can overlap with those of other conditions.
Testing for Poikilocytosis
Poikilocytosis is identified through a blood test that examines your blood smear. This test can be part of a regular check-up, or your doctor might suggest it if you’re showing signs of anemia, or if you have symptoms that can’t be easily explained. It can be a bit tricky to evaluate because sometimes the symptoms could be mixed up with other general symptoms.
Don’t worry if you are diagnosed with poikilocytosis, this doesn’t mean all your red blood cells (RBCs) are oddly shaped. In patients with poikilocytosis, the blood will have a mix of normal and abnormally shaped red blood cells, which are called poikilocytes. In some cases, a patient’s blood smear may show many different types of poikilocytes, especially in conditions like iron deficiency anemia or megaloblastic anemia.
In addition to the blood smear test, your doctor might suggest other tests to figure out the cause behind these abnormally shaped RBCs. They might recommend tests to check your serum iron levels, complete blood count, vitamin B-12, folate levels, the average volume of your red blood cells (mean corpuscular volume), the average amount of hemoglobin in your red blood cells (mean corpuscular hemoglobin), the average concentration of hemoglobin in your red cells (mean corpuscular hemoglobin concentration), and tests to check your liver function. Choosing the right test (or tests) depends on figuring out the exact shape of the cells.
Treatment Options for Poikilocytosis
Poikilocytosis is a condition where your red blood cells are abnormally shaped. Treating this condition usually depends on what’s causing it.
If it is due to low levels of iron, vitamin B12 or folate causing conditions like iron deficiency anemia or megaloblastic anemia, the treatment might involve taking supplements to boost levels of these substances in your body. It can also help to increase the amount of these vitamins in your diet. Sometimes, other diseases like celiac disease (which affects your small intestine) or alcoholism might reduce your body’s levels of these substances. In such cases, the treatment would also involve managing these underlying conditions.
Poikilocytosis can also be genetic, meaning it’s passed down through families. This is the case with conditions like thalassemia or sickle cell anemia. Treatment for these conditions usually lasts a very long time and the specific approach depends on whether you’ve inherited the condition from both of your parents (homozygous) or just one (heterozygous). This usually requires monitoring throughout your life, especially during periods when the disease symptoms increase. In some cases, it may be necessary to get blood transfusions regularly, or even a bone marrow transplant.
If your poikilocytosis is due to liver disease, which may cause target cells or acanthocytes, a type of abnormally shaped blood cell, you would need to be treated for the liver disease specifically. In extreme cases, this might mean a liver transplant.
Lastly, if you have sepsis, a serious infection that can cause schistocytes, another type of abnormally shaped blood cell, it’s essential to take antibiotics. All these treatments are aimed at addressing both the symptoms and the root cause of the poikilocytosis.
What else can Poikilocytosis be?
: Poikilocytosis refers to a condition where the individual’s red blood cells (RBCs) are abnormally shaped. However, there are other conditions that can also affect the shape, size, density, and behavior of red blood cells. Here are some of them:
- Anisocytosis is when the red blood cells vary in size. Generally, smaller and paler RBCs can mean iron deficiencies or hemoglobin issues, while larger RBCs can mean a lack of B12, folate, or thyroid hormones. Other conditions usually result in normal-looking RBCs.
- Howell Jolly bodies are abnormal red blood cells that contain inclusions, found in certain conditions such as asplenia where one doesn’t have a spleen.
- Anisochromia, on the other hand, refers to red blood cells that vary in color density due to different levels of hemoglobin. Iron deficiency anemia often leads to these paler cells.
- Rouleaux formations are clusters of red blood cells that stack up, giving them the appearance of pennies in a roll. This usually happens when there’s an increase in the rate at which red blood cells settle at the bottom of a test tube in an hour, seen in conditions like infections, cancers or inflammatory diseases. It’s also seen in conditions like hypoproteinemia, paraproteinemias and B-cell lymphomas. But remember, rouleaux is different from agglutination where red blood cells clump together due to the presence of antibodies. This could result in a falsely high mean corpuscular volume, which is the average volume of a red blood cell.
- Exposure to heavy metals like lead, results in something called Basophilic stippling. This is when red blood cells have small, blue dots due to the aggregation of ribosomes and fragments of rRNA precipitates. People with conditions that affect hemoglobin, the protein that carries oxygen in red blood cells, can also exhibit basophilic stippling, although the dots are generally finer. Chronic exposure to lead can lead to smaller red blood cells and increased mean platelet volume without impacting platelet or leukocyte count.
Therefore, understanding these conditions can greatly help in the proper diagnosis and treatment of blood related disorders.
What to expect with Poikilocytosis
How well a person recovers from poikilocytosis, a condition where the red blood cells are irregularly shaped, depends on what caused it. Some conditions like iron deficiency anemia and megaloblastic anemias (a condition where the body produces fewer, but larger red blood cells) can be easily treated and the person can recover fully. This is usually done by addressing the nutritional shortages that caused the condition in the first place.
However, other causes like sickle cell disease might have a worse outcome depending on how severe the symptoms are and any complications that occur. These complications could include infections and vaso-occlusive crises, which is a painful condition caused by sickle-shaped red blood cells blocking blood vessels. In such cases, the individual would require treatments for their entire life.
Possible Complications When Diagnosed with Poikilocytosis
The complications linked to poikilocytosis, a condition where your blood cells are abnormally shaped, will depend on what’s causing it. Sometimes the root cause might be hidden by the severity of the disease. But by observing the condition closely and using medical knowledge, we can use poikilocytosis to help point us in the right direction for a diagnosis. Below are some typical complications that arise from common causes of poikilocytosis:
For Sickle cell disease, the complications are:
- Infections
- Bone infection or Osteomyelitis
- Stroke, prolonged and painful erection
- Sudden lung-related issues or Acute chest syndrome
- Destruction of red blood cells at a very high rate or Hemolytic crisis
- A condition where the body stops producing new blood cells or Aplastic crisis
- Shrinkage and hardening of the spleen or Autosplenectomy (specific to sickle cell disease)
For Hereditary spherocytosis, potential complications include:
- Low folic acid levels in the body or Folate deficiency (might be a functional deficit).
- Rapid destruction of red blood cells also known as Hemolysis
- Stone formation in the gallbladder or Pigmented gall stones
- A condition where the body stops producing new blood cells or Aplastic crisis
Complications associated with Anemia can range from:
- Experiencing heart palpitations
- Heart failure
- Complications during pregnancy
- Delayed growth in infants and children
Preventing Poikilocytosis
Poikilocytosis, a condition where red blood cells aren’t the correct shape, can be caused by other health issues. It’s vital that patients understand what’s causing their poikilocytosis, what the future may hold, and all the treatment options available to them. For example, anemia caused by a lack of iron in the body is a condition that can be treated, and usually has a positive outcome. However, if it isn’t managed properly, it could become a dangerous situation.
Anemia during pregnancy can lead to various health problems, including serious birth defects like neural tube defects (problems with the brain and spine). These issues may occur if the mother has megaloblastic anemia, which is caused by a shortage of folate, an essential nutrient. Other possible complications of anemia during pregnancy include preeclampsia, a condition that causes high blood pressure, and preterm birth, which is when a baby is born too early.
When anemia is caused by a genetic disorder, such as sickle cell anemia or thalassemia, it will need to be treated for the patient’s entire life.
