Hemoglobin

iron efflux mechanism. The expression of ferroportin is increased in iron deficiency and hypoxia. (Babitt, 2010; Grotto, 2010). Hepcidin binds to ferroportin, causing its internalization and degradation and in turn affecting the release of iron for hemoglobin synthesis. In patients with CKD, there is an accumulation of…

Sickle Cell Anemia is an inherited trait from a parent that causes victims to have their blood cells turn into sickle looking shapes. Their many names or it including HbS disease Hemoglobin S disease, Hemoglobin SS disease. To get this disease, the offspring has to to get the trait from both the mom and dad in order to have it. You can’t get it like the flu, you can only get by inheriting it. There are prenatal tests for Sickle Cell Anemia which means they test babies before they are born with…

anemia. The disease is autosomal recessive, meaning that if both parents are unknowing carriers of thalassemia, there is a one in four chance of their children having the disease. Patients who have thalassemia cannot produce the normal amount of hemoglobin, which results in anemia, and the…

HbSE, and HbSO. Sickle cell disease is an inherited disease. It is caused by receiving two abnormal genes from both parents, who either have the disease themselves or are sickle cell trait carriers. This disease is produced by a genetic change in hemoglobin, the oxygen carrying protein in red blood cells. Normal red blood cells are round in shape. A person with sickle cell disease has curved or sickled shape red blood…

severe anemia due to the abnormal formation of hemoglobin. Thalassemia is inherited by either one or both parents. A mutation in either chromosome 11 (Deisserot et al, 1978) effect the synthesis of beta hemoglobin, whereas a mutation on chromosome 16 affect the synthesis of alpha hemoglobin(Deisserot et al, 1977). Hemoglobin is a tetramer made of two alpha chains and two beta chains (Cao et al, 2010). The location of the mutation in the hemoglobin chains is what characterizes the severity and…

The traditional sign is cyanosis, which is defined as a concentration of more than 5 g/100 ml of reduced hemoglobin in capillary blood and depends on arterial oxygenation, skin perfusion, and hemoglobin content. In human body the presence of central cyanosis, a blue coloration of the tongue and mucous membranes is thought to be a more reliable indicator of hypoxemia as these tissues are less likely to…

parents causes the production of structurally abnormal hemoglobin, clinical known as hemoglobin S, which cluster together, causing red blood cells to become rigid and develop a crescent shape. These sickled cells become trapped in small blood vessel and block them, reducing blood and oxygen flow in many parts of the body, and leading to tissue and organ damage. The disease is caused by a point mutation substituting thymine for adenine in hemoglobin beta gene (HBB), which results in coding for…

HBB that is located in the multigene locus of β-globin locus on chromosome 11, specifically on the short arm position 15.5[18]. Mutation in the HBB gene can lead to the formation of hemoglobin S that results in sickle cell anaemia [2]. When oxygen levels are low in the blood, a mutated form of hemoglobin (hemoglobin S aka HbS) alters the red blood cell giving it a crescent-looking shape (see figure 1.11).The abnormal crescent shape mean that red blood cell carry less oxygen, causing illnesses…

from the disease (“Sickle Cell Disease: Symptoms and Causes”). For sickle cell disease to be present an autosomal recessive pattern or condition must be present. That means that both parents must pass down a copy of the mutated gene, which is the hemoglobin *S gene (“Sickle Cell Disease: Learn.Genetics”). Sickle cell disease is confusing for most people because of the perplexed genetics make-up, the trait, and chances of their child getting the disease. Chances of getting the disease is…

prevalence among Black Americans and Hispanics in the United States. Inheritance is autosomal recessive and results in production of sickle hemoglobin S instead of hemoglobin A. Two copies of the hemoglobin S gene results in the most prevalent type of sickle cell disease, Hemoglobin SS. This type also has the shortest life span. The second type is Hemoglobin SC in which there is one copy of…