Understanding Anaemia: Types and Causes
Uploaded by
Thuvishka PrabagarUnderstanding Anaemia: Types and Causes
Uploaded by
Thuvishka PrabagarCommon questions
Powered by AIVitamin B12 deficiency can result in several specific complications. Neurologically, it may cause peripheral neuropathy, with symptoms like numbness and tingling of extremities . This deficiency can also lead to megaloblastic anaemia characterized by macrocytic anaemia and the presence of megaloblasts in the bone marrow due to defective DNA synthesis . Clinically, the deficiency can present with symptoms such as fatigue, paleness, and the more severe neurological issue of subacute combined degeneration of the spinal cord causing gait disturbance and proprioceptive loss . Additionally, patients may exhibit high serum folate and low red blood cell folate in the absence of B12, as MTHF accumulates in plasma .
Iron deficiency anaemia typically presents as microcytic hypochromic anaemia with characteristics such as low Mean Corpuscular Volume (MCV) and Mean Corpuscular Haemoglobin (MCH), resulting in smaller red blood cells with reduced haemoglobin content . On the other hand, anaemia of chronic disease is generally normocytic normochromic in its early stages, meaning red blood cells are of normal size and haemoglobin content, but it can become microcytic hypochromic in late stages . These differences impact diagnosis, as iron deficiency anaemia will often show low serum iron, low ferritin, and high Total Iron Binding Capacity (TIBC), while anaemia of chronic disease typically shows low TIBC and high serum ferritin . Consequently, treatment also differs: iron deficiency anaemia is managed with iron supplementation, whereas managing anaemia of chronic disease involves treating the underlying condition .
The diagnostic steps for anaemia include confirming anaemia with a full blood count (FBC) and measuring haemoglobin levels to assess its presence and severity. The next step is to classify the anaemia morphologically into microcytic, normocytic, or macrocytic types based on red cell indices like Mean Corpuscular Volume (MCV) and Mean Corpuscular Haemoglobin (MCH). Finally, investigating the aetiology involves performing specific tests like iron studies for iron deficiency, and B12/folate levels for megaloblastic anaemia . These steps help identify the specific cause, facilitating targeted treatment to address the deficiency or source of blood loss, thus treating the underlying condition rather than just the symptom of anaemia .
The detection of ring sideroblasts, characterized by iron-laden mitochondria surrounding the erythroblast nucleus, is essential for diagnosing sideroblastic anaemia . The main method for detecting these sideroblasts is bone marrow examination using Perls' Prussian Blue staining, which highlights iron deposits by turning them blue . This procedure involves staining air-dried marrow smears, followed by exposure to acidified potassium ferrocyanide to reveal the iron as Prussian Blue. Detection is crucial as ring sideroblasts are a hallmark of sideroblastic anaemia and indicate impaired haem synthesis despite adequate iron availability . Identifying these cell types assists in differentiating sideroblastic anaemia from other types of anaemias, guiding appropriate management and treatment strategies .
Iron absorption in the body is influenced by several factors. Favorable factors include the ingestion of haem iron, the ferrous form of iron, acids such as hydrochloric acid and vitamin C, and solubilizing agents like sugars and amino acids. Conditions like iron deficiency, increased erythropoiesis, pregnancy, and hereditary haemochromatosis also enhance iron absorption . Conversely, inhibitory factors include inorganic iron, the ferric form of iron, alkalis such as antacids, phytates, hepcidin, iron excess, infections, and tea consumption . Understanding these factors is essential for the treatment and management of iron deficiency anaemia, as enhancing absorption can improve iron status in patients. For instance, vitamin C is recommended as a dietary adjuvant during oral iron therapy to enhance absorption, while foods or medications that inhibit absorption should be avoided .
Specific signs of iron deficiency anaemia can significantly aid clinicians in differentiating it from other forms of anaemia. These include symptoms like painless glossitis, angular stomatitis, brittle and spoon-shaped nails (koilonychia), and pica or unusual food cravings . The presence of these unique symptoms suggests a diagnosis of iron deficiency anaemia, differentiating it from other types such as anaemia of chronic disease or megaloblastic anaemia, which exhibit different clinical presentations and underlying causes . For instance, megaloblastic anaemia may present with neurological symptoms in the case of vitamin B12 deficiency, which are absent in iron deficiency anaemia . These physical signs, alongside laboratory tests, facilitate a more accurate diagnosis and appropriate therapeutic approach .
The symptoms of anaemia are influenced by both the speed of onset and the severity of the condition. A rapid onset of anaemia can lead to more acute symptoms, such as fatigue, palpitations, shortness of breath, and dizziness, as the body's physiological response is not able to adequately compensate for the sudden decrease in oxygen-carrying capacity . Conversely, in cases of a gradual onset, the body may adapt to mildly reduced haemoglobin levels, leading to less pronounced symptoms initially. Severe anaemia can cause significant symptoms regardless of onset speed, like chest pain, angina, dizziness, and fainting, due to the critical reduced capacity for oxygen delivery to tissues .
In anaemia of chronic disease, cytokines play a pivotal role in disrupting normal iron metabolism and erythropoiesis. These cytokines, which are released during the inflammatory process, inhibit the release of iron from macrophages to erythroblasts, limiting iron availability for haemoglobin synthesis . Additionally, cytokines can suppress the production of erythropoietin, a hormone essential for red blood cell production in the bone marrow, and they can also reduce the lifespan of circulating red blood cells by promoting erythrophagocytosis . These actions collectively contribute to the pathogenesis of anaemia associated with chronic diseases, making management challenging as it not only requires treating the anaemia but also addressing the underlying inflammatory condition .
Vitamin B12 absorption is crucial for preventing megaloblastic anaemia because B12 is necessary for converting methyl tetrahydrofolate (MTHF) to tetrahydrofolate (THF), a precursor for DNA synthesis . The absorption of vitamin B12 occurs in the distal ileum and requires intrinsic factor, produced by gastric parietal cells . In conditions such as pernicious anaemia, where there is an autoimmune attack on gastric mucosa leading to atrophy and reduced production of intrinsic factor, vitamin B12 deficiency occurs . This deficiency results in impaired DNA synthesis, causing the development of large, abnormal hematopoietic cells (megaloblasts) in the bone marrow, characteristic of megaloblastic anaemia .
Serum iron studies are crucial in characterizing iron deficiency. In iron deficiency anaemia, serum iron is typically low, Total Iron Binding Capacity (TIBC) is high, and serum ferritin is low due to depleted iron stores . During treatment with iron supplements, these values can shift: serum iron may increase, TIBC may normalize as iron stores are replenished, and ferritin levels rise. However, in the presence of chronic diseases, TIBC may be low rather than high, and ferritin may remain elevated or normal, as ferritin is an acute-phase reactant, which can mask underlying iron deficiency making the interpretation of these studies in chronic disease complex . This distinction is vital for correcting the anaemia's underlying cause without solely focusing on iron supplementation .