Beta Thalassemia Beta thalassemia is an inherited blood disorder characterized by the abnormal production of a blood protein called hemoglobin. This condition is caused by a mutation within the gene that is responsible for the healthy production of hemoglobin. In healthy people‚ hemoglobin carries oxygen to tissues and cells throughout the body. Patients with beta thalassemia do not have adequate levels of oxygen within the blood‚ which can cause anemia. There are two main types of beta thalassemia
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Hemoglobin and its importance Oxygen is the most essential element required to sustain human life. If an adequate supply of oxygen is not circulated throughout the body to vital organs and tissues‚ brain damage‚ organ failure and death can result. Hemoglobin (Hb)‚ the iron-containing respiratory protein in red blood cells‚ is responsible for transporting oxygen from the lungs to the rest of the body. Measured in grams per deciliter (g/dL)‚ hemoglobin levels indicate the blood’s ability to carry
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and less hemoglobin (HEE-muh-glow-bin) than normal. Hemoglobin is an iron-rich protein in red blood cells. It carries oxygen to all parts of the body. Hemoglobin also carries carbon dioxide (a waste gas) from the body to the lungs‚ where it’s exhaled. People who have thalassemias can have mild or severe anemia (uh-NEE-me-uh). Anemia is caused by a lower than normal number of red blood cells or not enough hemoglobin in the red blood cells. Overview Normal hemoglobin‚ also called hemoglobin A‚ has
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Sickle cell anemia is a genetic blood disorder which is inherited from both parents‚ that causes red blood cells in patients to be sickle-shaped. This causes the red blood cells to clump together‚ and be unable to retain oxygen. Sickle cell anemia was first noted in 1910‚ and is thought to have evolved as a way for the body to naturally fight malaria. It is most prevalent in Africa‚ India‚ the West Indies and the Mediterranean‚ places where malaria is more common. In this country‚ it is most prevalent
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from the abnormal production of hemoglobin S (HbS). Therefore‚ a mutation in this gene causes a lower supply of oxygen to the cells‚ which results in occlusion of the blood vessels. Individuals diagnosed with sickle-cell anemia have abnormal function of the gene that encodes for subunit B‚ which is a protein that serves as part of the hemoglobin A (HbA). The HbA is responsible for oxygen binding through the blood stream. Indeed‚ the abnormal polymerization of hemoglobin occurs in homozygous individuals
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and our blood is a living tissue made up of liquid and solids. There are many diseases related to blood such as anemia which is the decrease in oxygen supply to tissue and causes hypoxia‚ thalassemia is the mutation in one or more globin gene of hemoglobin‚ etc. Therefore‚ one of blood disorders is the most common symptomatic hemoglobinopathy with the greatest prevalence in worldwide which is called sickle cell disease. Sickle cell disease is popular in tropical Africa‚ Mediterranean‚ the Middle
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function • Chapter 5.1 • Myoglobin: structure‚ O2-binding • Hemoglobin: structure‚ cooperativity in O2binding‚ Hill constant‚ allosteric interactions‚ Bohr Effect‚ BPG-binding and effect • Abnormal Hemoglobins Functions of Proteins Fibrous proteins: collagen‚ keratin‚ silk - give tensile strength‚ shelter‚ protection Globular proteins: • Storage of ions and molecules – myoglobin‚ ferritin • Transport of ions and molecules – hemoglobin‚ serotonin transporter • Defense against pathogens – antibodies
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HEMATOLOGY ORGAN SYSTEMS SMALL GROUP ANSWER KEY Case 1 1. Iron deficiency vs thalassemia vs anemia of chronic disease. 2. Serum iron‚ TIBC‚ ferritin. 3. Blood loss‚ likely GI. A GI evaluation is indicated. 4. Slow response (weeks) to oral iron. 5. Incorrect diagnosis‚ non-compliance‚ continued blood loss. Case 2 1. Anemia of chronic disease vs iron deficiency. 2. Serum iron‚ TIBC‚ ferritin. 3. Consistent with ACD‚ but also iron deficiency with inflammation. 4. Bone marrow iron stain
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Pellagra is caused by the deficiency of niacin and/or tryptophan in our diet. Niacin also called vitamins B-3 is a water-soluble vitamin‚ it means it is not stored in the body and they are excreted from the body through urine or feces. That is the reason why the body need regular supply of this vitamins in our diet. Its main function is to help the cellular metabolic pathway to convert food to energy. Niacin is found in poultry‚ tuna and other fish‚ enriched bread and cereals‚ beef‚ and peanuts
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tendency to block the blood flow to the blood vessels leading to limbs and organs. Sickle Cell Anemia is caused by a mutation in the hemoglobin beta gene (HBB). This gene’s function is to give instructions for making a protein called beta-globin. Beta-globin is a subunit of hemoglobin and there are two beta-globins and two alpha-globins in hemoglobin. Hemoglobin is the protein in red blood
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