poikilocytosis 23765437865210857453257844.pptx
- 1. Poikilocytosis Dr. Ckalyan, Dr. Emuralinath, Dr. K. Sravan Pragna, Dr. Archana Jain & Dr. P. Metals & Dr. P. Manjari
- 3. • INFORMATION:- • Poikilocytosis is the term useful for identifyig abnormal-shaped red blood cells (RBCs) in the blood. • Normal RBCs (also called erythrocytes) are typically disk-shaped, are thinner in the middle than in the edges, with a diameter of 6.2 to 8.2 micrometers, a thickness at the thickest point of 2 to 2.5 micrometers, and a thickness in the center of 0.8 to 1 micrometers.
- 4. • Poikilocytosis usually is related to an enhancement in abnormal-shaped red blood cells that make up 10% or more of the total red blood cells. • Poikilocytes may be flat, elongated, teardrop, or crescent-shaped, or they may exhibit point-like or thorn-like projections or may have any other abnormal feature. This activity explains about the evaluation and treatment of poikilocytosis
- 5. • Objectives: • Identify the pathophysiology of poikilocytosis. • 2) Explain about appropriate evaluation of common causes of poikilocytosis. • 3) Review the management options available for different types of medical conditions related to poikilocytosis. • 4) Summarize interprofessional team strategies for enhancing care coordination and communication to enhance the care of patients along with poikilocytosis and enhance patient outcomes.
- 6. • Etiology • Poikilocytosis occurs because of of internal damage or external (environmental) trauma. • Poikilocytosis causes, generally speaking, it can be inherited or acquired. • Inherited conditions happen with the help of genetic abnormalities or mutations. 4)Acquired conditions usually take place later in life. • 5)The following list provides a general overlay dependent on etiology.
- 7. • Inherited causes of poikilocytosis include: • 1)In sickle cell anemia, RBCs are an abnormal crescent, an elongated spiculated shapetermed as sickle cells or drepanocytes • 2)Thalassemia, a genetic disorder in which abnormal hemoglobin is made, consists of target cells or codocytes • • 3)Hereditary spherocytosis consists of spherocytes.
- 8. • Acquired causes of poikilocytosis include: • 1)Iron deficiency anemia, a common type of anemia that is observed if there is insufficient iron in the body, consists of elliptocytes (ovalocytes) • • 2)Megaloblastic anemia caused by a deficiency of either folate or vitamin B-12 consists of dacrocytes (teardrop cells) and elliptocytes. • • 3)Autoimmune hemolytic anemia generally consists of schistocytes and spherocytes • Liver and kidney disease contain echinocytes or burr cells
- 9. • 4)Alcohol-related liver disease consists of acanthocytes • • 5)Myelofibrosis consists of tear drop cells • • 6)Lead poisoning (heavy metals) • • 7)Infections (Plasmodium, Babesia)
- 10. • Causes dependent on the type of poikilocytosis: • 1)Spherocytes: Observed in hereditary spherocytosis, autoimmune hemolytic disorders, red cell fragmentation disorders, hemolytic transfusion reactions, ABO hemolytic diseases of newborn/Rh hemolytic disease of the newborn, hypophosphatemia, bartonellosis, snakebites and hyposplenism.
- 11. • 2)Codocytes (target cells): observed in thalassemia, liver disease (cholestatic type), hemoglobin C disorder, recently splenectomy, autosplenectomy in sickle cell disease, and iron deficiency disorder. • • 3)Sickle cells (drepanocytes): observed in sickle cell disease. • Dacrocytes (teardrop cells): Seen in beta-thalassemia, leukemia, hemolytic anemia, myelofibrosis, and megaloblastic anemia.
- 12. • 2)Codocytes (target cells): observed in thalassemia, liver disease (cholestatic type), hemoglobin C disorder, recently splenectomy, autosplenectomy in sickle cell disease, and iron deficiency disorder. • • 3)Sickle cells (drepanocytes): observed in sickle cell disease. • Dacrocytes (teardrop cells): Seen in beta-thalassemia, leukemia, hemolytic anemia, myelofibrosis, and megaloblastic anemia.
- 13. • 2)Codocytes (target cells): observed in thalassemia, liver disease (cholestatic type), hemoglobin C disorder, recently splenectomy, autosplenectomy in sickle cell disease, and iron deficiency disorder. • • 3)Sickle cells (drepanocytes): observed in sickle cell disease. • Dacrocytes (teardrop cells): Seen in beta-thalassemia, leukemia, hemolytic anemia, myelofibrosis, and megaloblastic anemia.
- 14. • 2)Codocytes (target cells): observed in thalassemia, liver disease (cholestatic type), hemoglobin C disorder, recently splenectomy, autosplenectomy in sickle cell disease, and iron deficiency disorder. • • 3)Sickle cells (drepanocytes): observed in sickle cell disease. • Dacrocytes (teardrop cells): Seen in beta-thalassemia, leukemia, hemolytic anemia, myelofibrosis, and megaloblastic anemia.
- 15. • 6)Elliptocytes(ovalocytes): Observed in iron deficiency anemia, thalassemia, megaloblastic anemia, and myelofibrosis. • • 7)Echinocytes (burr cells): Observed in pyruvate kinase deficiency, kidney disease, and cancer. • 8)Other nonspecific types are leukocytes, stomatocytes (mouth-shaped cells), and degmacytes (bite cells). •
- 16. • • • Target cells (codocytes): Most commonly observed in thalassemia because of impaired hemoglobin production (Hb). Normal Hb has two alpha and two beta chains, a reduction in alpha chains is alpha-thalassemia, and a reduction in beta chains is beta- thalassemia. Target cells have an area of central hemoglobinization covered by a halo of pallor. Besides hemoglobinopathies, these cells are also obsered in lecithin- cholesterol acyl transferase (LCAT) deficiency, iron deficiency anemia, sideroblastic anemia, obstructive intrahepatic disease, and status post splenectomy (or asplenia).
- 17. • Schistocytes are fragmented RBCs observed generally in hemolytic anemias, hemolytic disorders, DIC, pre-eclampsia, B12 deficiency, HIV, BMT, mechanical heart valves, and COVID infection, thrombotic thrombocytopenic purpura and hemolytic uremic syndrome. • • Echinocytes or Burr cells can be observed in a myriad of clinical situations, along with burns, uremia, malnutrition, hepatic cirrhosis, pyruvate kinase deficiency, hypomagnesemia, hypophosphatemia, hemodialysis, parenteral fish oil and sometimes in long-distance runners. •
- 18. • Acanthocytes, or spur cells, are observed in disease entities such as myelodysplasia, pyruvate kinase deficiency, alcoholic cirrhosis, hypothyroidism, anorexia nervose, drug- induced forms (e.g., statins, misoprostol), neuroacanthocytosis, and abetalipoproteinemia. The latter two comprise hereditary neurodegenerative diseases along with acanthocytes as a concurrent finding. • • Dacrocytes or teardrop cells / lacrymocytes are erythrocytes that have been remodeled into a 'teardrop formation. While they are highly suggestive of myelofibrosis, they do appear in other ailments. These include thalassemia major, myeolphtisis (marrow infiltration), extramedullary hematopoiesis, hereditary elliptocytosis, hereditary pyropokilocytosis, severe Iron deficiency, myelodysplasia, megaloblastic anemia, autoimmune hemolytic anemia and microangiopathic hemolytic anemia. • Elliptocytes or ovalocytes are best exemplified by hereditary elliptocytosis (>25% of cases) and hereditary pyropoikilocytosis. They are both autosomal, the former dominant while the latter is recessive. Other entities that can present with elliptocytes include iron deficiency anemia, thalassemia, myelofibrosis, and myelodysplasia. • • Deg
- 19. • Degmacytes or Bite cells derive their name, colloquially, from the fact that their physical structure provides the impression of a "bite" mark in the membrane. The "bite" happens as the spleen removes damaged hemoglobin from the cell. This represents a common endpoint to a variety of causations. Diseases participated with this finding include G6PD deficiency, unstable hemoglobins, (congenital) Heinz body anemia, fava beans, and drug-induced oxidative hemolysis. • • Stomatocytes are derived from genetic defects related to membrane proteins resulting in the "leakiness" of cations and fluid. Cells appear cup-shaped with a central pallor in the form of a slit, sometimes referred to as a "fish mouth." The hereditary form of Stomatocytosis is autosomal dominant. Acquired forms include factors namely excessive alcohol intake (that resolves within two weeks of alcohol cessation), obstructive lung disease, Rh-null (autosomal recessive defect in phospholipids), and artifactually (because of slow drying of the specimen in a humid environment. •
- 20. • Histopathology • Drepanocytes; Hemolysis of the sickle cell compounds the illness by improving the systemic inflammatory environment. With hemolysis, there is a release of cell-free hemoglobin, which depletes Hemopexin, Haptoglobin, and, most notably, nitric oxide. With nitric oxide depletion comes platelet activation, upregulation of endothelial adhesion molecules, and vasoconstriction. These signs herald the development of vascular dysfunction, occlusion, and subsequent end-organ damage. In drepanocytes, the amino acid malposition results in red cell hypoxic sensitivity as well as sickling. As the erythrocytes pass through the relatively hypoxic regions of the body's capillaries, the low oxygen tension causes the Hemoglobin S to polymerize into rods resulting in the sickle shape primarily and a cigar-shape secondarily. • S- polymer damages the cell membranes resulting in a calcium/potassium transit problem. The S-polymers also precipitate particularly against the inner surface of the red cell membrane resulting in iron-mediated oxidative damage. The damaged sickle cells then adhere to the vascular endothelium resulting in vascular occlusion. • Spherocytes; Spherocytes are small round cells that lack the flat, light-colored center of regular erythrocytes. The hereditary form is autosomal dominant in roughly 75% of cases, while the remaining 25% are autosomal recessive or de novo. The hereditary forms exhibit gene mutations SPTA1, SPTB, ANK1, SLC4A1, and EPB42 that code for proteins spectrin, ankyrin, band 3, and erythrocyte protein band 4.2. The resultant dysmorphisms derive from their reduced membrane surface area along with reduced membrane flexibility and enhanced fragility. The cells become rounded and lose their central pallor. They become more captured in an easy manner and prematurely destroyed by the spleen. Sometimes the hemolysis may be significant in that the bone marrow promotes a massive (reactive) production of young red blood cells, termed as reticulocytosis.
- 21. • Normally reticulocytes are macrocytic and carry a bluish hue because of the presence of internal RNA. They are pitted and matured especially within the spleen and should normally be < 2.5% of the red cell population. The difference in color tone between the bluish reticulocytes and the red cells is termed as polychromasia. Autoimmune hemolysis is identified because of the presence of a positive Coomb test alongside the spherocytes . Microspherocytes, hyperchromic, and densely hemoglobinized red cells are also observed in immune hemolysis. Spherocytes can be acquired in MDS because of the mutation in U2AF1. Spherocytes may be found alongside a myriad of other cell forms in a finding termed as leukoerythroblastosis. This tends to happen if the bone marrow is infiltrated or overrun by another disease entity, such as cancer. Typically leukoerythroblastosis portends a poor prognosis. • Codocytes; The basic mechanism of target cell formation is when the intracellular volume has become disproportionately smaller than what is needed to keep the surface area full.[38] The resultant membrane appears redundant, can fold over itself (making a bell-like form), and remodel in such a fashion as to possess a pale halo twixt a red peripheral ring and central core. In liver disease, the membrane cholesterol is decreased, thereby decreasing the membrane tensile strength and leading to codocyte formation. In hemoglobinopathies, there can be uneven hemoglobin distribution within the cell leading to a distortion in the surface area/volume ratio with subsequent target cell formation. Target cells may also occur artifactually when blood smears are made in a high-humidity environment. The margin is up to 5%
- 22. • Schistocytes; Schistocytes are disrupted red blood cells. Helmet cells are a subset where • red cell has been "chopped" mechanically, leaving behind a roughly semicircular residual. It looks akin to a helmet with a straight border next to the semicircle and sharp, angular edges. Triangular cells are the remnants, the triangle-shaped detritus of red cells; they are very small fragments with significant distortions from significant disruptions. Schistocytes might actually be 'normal' in adults and full-term neonates if their presence is < 1% of the population.[13] In newborns, one may find pyknocytes, fragile and contracted erythrocytes. They can persist in premature babies for up to the first six months of life. Sometimes schistocytes can be difficult to identify if they are embedded in a clouded field of other cell types like echinocytes, acanthocytes, and created (shriveled) red blood cells. In this situation, noting an increase in the LDH, the RDW (measurement of anisocytosis), or the presence of polychromasia may offer a measure of help in making the diagnosis. • Echinocytes or Burr cells are typically reversible dysmorphisms. They have an area of central pallor and multiple small projections, almost spicular, with uniform size and presentation.[6] • Acanthocytes are spiculated erythrocytes with projections of varying size, shape, and distribution.[20] Present theory suggests that expanding the outer red cell membrane layer gives rise to the characteristic spicules. (Expansion of the inner lipid bilayer is thought to lead to stomatocytosis.) Autophagia and autolysosomal degeneration occur in later stages.
- 23. • microspherocytes and erythrocyte fragments. • Bite cells; The commonality amongst diseases with bite cells (degmacytes) is the denaturation and precipitation of their hemoglobin.[27][41] Once the hemoglobin precipitates, it forms a Heinz body, which will cause the entrapment of the red cells within the spleen. The spleen severs off the affected membrane- hemoglobin segment leaving behind the classic "bite." G6PD deficiency is an x-linked recessive disease prevalent among African and Mediterranean peoples. The enzyme protects the red cell from oxidative stress, but as the cells age, the concentration lessens, and hemolysis can result. A patient with hemolysis may give an impression of normalcy as the body's reaction to the hemolysis is reticulocytosis. Younger red cells have an adequate enzyme amount and so the level, overall, when tested, may appear to be normal. Drugs such as phenazopyridine, nitrofurantoin, and sulfa agents can cause oxidative stress in these cells.[28] Infections and Fava beans are causative agents as well. • Stomatocytes; The basic defect in stomatocytosis is believed to be the dysregulation of fluid and cation movement into the cells. PIEZO1 codes for a transmembrane protein that is felt to establish "mechanosensitive currents" across the red cell membrane.[42][43] PIEZO1 mediates calcium movement and acts as a primary regulator of volume.[30] Variations in the red cell presentations are explained by differences in PIEZO1 gene mutation prevalence.[29] Dysfunction typically leads to dehydration (rarely overhydration).
- 24. • History and Physical • In poikilocytosis, RBCs are irregularly shaped and may be unable to carry enough oxygen. Subsequently, the patient will manifest fatigue, pale skin, shortness of breath, palpitations, and weakness. The main feature of poikilocytosis is having 10 percent or more abnormally-shaped RBCs. External stressors have the propensity to magnify the signs and symptoms of the erythrocyte's illness. For example, sickle cell disease commonly presents as (when exposed to cold, dehydration, hypoxia) sickle cell crisis (hemolytic, aplastic, sequestration), acute chest syndrome, vaso-occlusive crisis, and autosplenectomy. • Anemia due to increased intravascular hemolysis can present as an indirect hyperbilirubinemia. The sclera and skin may appear jaundiced in hemolysis; the urine may be discolored. The most difficult part of the exam is that the symptoms can be admixed with other, nonspecific findings.
- 25. • DIAGNOSIS • Poikilocytosis is diagnosed with a blood smear examination. • This test can be perfoemed as part of a routine physical exam or when the patient is experiencing symptoms of anemia or any unexplained symptoms. • As stated before, the most difficult part of the evaluation is that the symptoms may be admixed with other, nonspecific findings. • Not all RBCs will take on an abnormal shape. • Patients with poikilocytosis exhibit some normally shaped cells RBCs mixed with abnormally shaped poikilocytes. • Sometimes, many different types of poikilocytes are observed in one patient's blood smear in conditions such as iron deficiency anemia, megaloblastic anemia, etc. • Besides the blood smear, other tests are conducted to detect the etiology of abnormally shaped RBCs. • Examples of other commonly used diagnostic tests include serum iron levels (iron studies), complete blood count (CBC), vitamin B-12, folate, mean corpuscular volume (MCV), mean corpuscular hemoglobin (MCH), mean corpuscular hemoglobin concentration (MCHC),and liver function tests. Choosing the right test(s) can depend on determining the right morphology.
- 26. • Treatment / Management • The treatment of poikilocytosis is dependent on the underlying cause of the poikilocytosis. • In conditions where poikilocytosis is happened by iron deficiency anemia, megaloblastic anemia because of low levels of iron, vitamin B12, or folate, in a respective manner, is usually treated by taking supplements and increasing the levels of these vitamins in the diet and/or by treating the underlying disease (such as celiac disease or alcoholism) that have caused the deficiency. • Poikilocytocis because of inherited causes namely thalassemia or sickle cell anemia may need treatment for a long duration, based on their clinical variants (homozygous or heterozygous). • Genetic diseases, usually, need lifelong monitoring with the treatment of periodic disease exacerbations. • These cases may need blood transfusions, or in some cases of poikilocytosis, a bone marrow transplant may be necessary to treat their condition. • People with other causes of poikilocytosis, such as liver disease (with target cells or acanthocytes), should be treated accordingly. • Some may need a liver transplant, while patients with sepsis or serious infections (may have schistocytes) may need antibiotics.
- 27. • Complications • Complications also are nased on the cause of poikilocytosis. Sometimes the severity of the disease may overshadow or obscure the underlying dyserythropoiesis. Clinical acumen, coupled with a thorough observation, can use poikilocytosis regarding the right diagnostic direction. The following are some of the complications related to common etiologies of poikilocytosis: • Sickle cell disease complications include: • Infections • Osteomyelitis • Stroke, priapism • Acute chest syndrome • Hemolytic crisis • Aplastic crisis • Autosplenectomy (seen in sickle cell disease) • • Hereditary spherocytosis complications include: • • Folate deficiency (might be a functional deficit). • Hemolysis • Pigmented gall stones • Aplastic crisis • Anemia complications include palpitations, heart failure, pregnancy complications, and delayed growth in infants and children.
- 28. • Complications • Complications also are nased on the cause of poikilocytosis. Sometimes the severity of the disease may overshadow or obscure the underlying dyserythropoiesis. Clinical acumen, coupled with a thorough observation, can use poikilocytosis regarding the right diagnostic direction. The following are some of the complications related to common etiologies of poikilocytosis: • Sickle cell disease complications include: • Infections • Osteomyelitis • Stroke, priapism • Acute chest syndrome • Hemolytic crisis • Aplastic crisis • Autosplenectomy (seen in sickle cell disease) • • Hereditary spherocytosis complications include: • • Folate deficiency (might be a functional deficit). • Hemolysis • Pigmented gall stones • Aplastic crisis • Anemia complications include palpitations, heart failure, pregnancy complications, and delayed growth in infants and children.
- 29. • Complications • Complications also are nased on the cause of poikilocytosis. Sometimes the severity of the disease may overshadow or obscure the underlying dyserythropoiesis. Clinical acumen, coupled with a thorough observation, can use poikilocytosis regarding the right diagnostic direction. The following are some of the complications related to common etiologies of poikilocytosis: • Sickle cell disease complications include: • Infections • Osteomyelitis • Stroke, priapism • Acute chest syndrome • Hemolytic crisis • Aplastic crisis • Autosplenectomy (seen in sickle cell disease) • • Hereditary spherocytosis complications include: • • Folate deficiency (might be a functional deficit). • Hemolysis • Pigmented gall stones • Aplastic crisis • Anemia complications include palpitations, heart failure, pregnancy complications, and delayed growth in infants and children.
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