Anaemia

• Alpha thalassemia is characterized by gene deletions, with four different genes producing different syndromes.
• Alpha thalassemia gene deletion can cause excess unpaired globins to clump up on the red blood cells, leading to hemolysis.
• Beta thalassemia major can cause frontal bossing, a description of the appearance of the skull x-rays, and chipmunk faces due to ineffective hematopoiesis.
• Beta thalassemia has only two genes, resulting in two different manifestation levels: beta thalassemia minor with mild anemia and beta thalassemia major with severe anemia.
• Alpha thalassemia gene deletion can lead to hemolysis, affecting red blood cell precursors in bone marrow, which can lead to ineffective erythropoiesis.
• Stress, like oxidative stress, bites like bite cells and heinz ketchup.
• In hereditary spherocytosis, the mean corpuscular hemoglobin concentration (MCHC) is elevated, making it the most useful screening test for assessing spherocytosis.
• Heinz bodies are denatured clumped damaged hemoglobin attached to the red blood cells.
• Bite cells are when the body senses macrophage just to eat them up and just take these little bites out of them.
• The most commonly involved protein in hereditary spherocytosis is spectrin, but it can also involve something called ankerin.
• Hereditary spherocytosis is an autosomal dominant disorder of dysfunctional red blood cell proteins, caused by an intrinsic defect of the red blood cell membrane proteins and cytoskeleton, leading to increased fragility of the red blood cells and an alteration of the biconcave shape of the cell into a sphere shape.
• Hereditary spherocytosis causes hemolytic anemia, splenomegaly, and jaundice.
• An MCHC of 36 or higher is very consistent with spherocytosis.
• In Sideroblastic Anemia, there are no heme boxes for iron to bind to, causing iron to come out all over the place with no transportation.
• In cells with Sideroblastic Anemia, iron is loaded but unable to do anything with it as it is stuck in the mitochondria.
• The abnormality in the production of heme in Citroblastic Anemia prevents heme from binding to iron, preventing iron from binding with him to get out of the mitochondria.
• Excess iron is loaded in the mitochondria with nowhere to go in Sideroblastic Anemia.
• Sickle cell disease is due to a point mutation where glutamic acid is substituted by valine.
• A patient with decreased hemoglobin and increased homocysteine and methylmalonic acid may have B12 deficiency, with the etiology being Crohn's disease.
• A patient with chronic inflammatory disease, such as rheumatoid arthritis, may have anemia of chronic disease.
• G6PD deficiency is an X-linked recessive disorder caused by decreased conversion of NAD or NADP to NADPH.
• Anemia is a decrease in one or more of the red blood cell measurements such as hemoglobin, hematocrit, red blood cell count, and hemoglobin content.
• Hemoglobin is the protein that's contained in red blood cells and it's responsible for delivery of oxygen to the tissues.
• Hematocrit measures the volume of red blood cells compared to the total blood volume, indicating the percentage of blood volume occupied by red blood cells.
• Folate is stored in the body for only about three to four months, while B12 can be stored for years.
• Folate deficiency can develop more rapidly than B12 deficiency.
• Folate is essential for the body as it helps in the formation of red blood cells, DNA, and RNA.
• Folate deficiency can lead to anemia, fatigue, palor, and neurologic symptoms, which are generally not seen in B12 deficiency.
• Clinical manifestations of folate deficiency include normal anemia symptoms, fatigue, palor, and no neurologic symptoms.
• Treatment of folate deficiency is simple and involves folic acid supplementation.
• Etiologies of folate deficiency include medications, diet, pregnancy, and celiac disease.
• Diagnosis of folate deficiency is done through high MCV elevation, macrocytic hemoglobin, elevated homocysteine, and normal methyl malonic acid.
• Folate deficiency during pregnancy can lead to neural tube defects in the fetus.
• Folate, also known as folic acid, is found in green leafy vegetables, fruits, beans, peas, cereals, and grains.
• Chronic alcoholics and elderly patients are at risk of folate deficiency due to their dietary habits.
• Folate deficiency, also known as vitamin B9 deficiency, is a deficiency caused by several factors, including medications, diet, pregnancy, and celiac disease.
• Pregnant and lactating women have an increased folate demand, which can result in folate deficiency if they don't properly supplement.
• Mean corpuscular volume (MCV) is the average volume or size of the red blood cells, which helps narrow down different types of anemia.
• Transferrin is picky and doesn't always want to bind iron, sometimes it does and sometimes it doesn't.
• Transferrin is a protein that binds to and transports iron.