Sickle-cell disease

Hereditary Spherocytosis is a condition in which red blood cells are shaped like spheres instead of flat discs. Because of their unusual shape, the HS red blood cells have difficulty passing through the spleen, the organ that rids the blood of dead cells and bacteria. Those affected by this condition experience anemia, jaundice, and an enlarged spleen (NLM “Hereditary Spherocytosis”). In Cystic fibrosis, a defective gene causes a buildup of thick, sticky mucus that obstructs the passages of…

mutation. This change is more than 100 years. Another example of mutation about a gene called DARC (It saves on the red blood cell surface), which saved millions of Africans from a deadly disease, malaria. (Vivax parasite through DARC molecules into red blood cells, hinder DARC so as to keep the pathogen. But when the shapes of red blood cells changed, the ability of infect these cells by malaria parasites is also…

known to be a form of an unusual disorder that generically affects a considerable populace around the globe. By definition, hereditary spherocytosis is a term that is accorded to an inherited blood condition that contains abnormally shaped red blood cells (RBCs) (Hsiao et al, 2013). This abnormality has been associated with the reduction of RBCs supply and results into an elevation in the quotient of degeneration same as anemia for patients. On the other hand, autoimmune hemolytic anemia (AIHA)…

red blood cells in the foot break down faster than usual. This is usually due to repeated contact between the foot and the ground. This condition often happens to long-distance runners. It can also happen to other athletes, including dancers and hikers. This condition may also be called march hemoglobinuria. This condition may cause part of the red blood cells (hemoglobin) to appear in the urine, making the urine red (hematuria). In most cases, the body can make enough new red blood cells to…

Oxygen is an essential element is cellular metabolism, and it is readily available in the atmosphere. However, oxygen must be transported from the atmosphere to the cells for it to be used in metabolism. It is transported by blood through the circulatory system. It is the hemoglobin inside the red blood cells that is responsible of binding the oxygen. A hemoglobin consists of four sub units and therefore it can be termed as a tetramer. This tetramer is made of two dimers known as alpha-beta…

LEBER HEREDITARY NEUROPATHY PATHOPHYSIOLOGY Three mitochondria mutations contribute to Leber hereditary neuropathy disease. The three mitochondria mutations G11778A, G3460A, T14484C occurs inside of complex 1 Nicotinamide Adenine Dinucleotide ubiquinone oxidoreductase (Chinnery et al., 2001). Complex 1 NADH: ubiquinone oxidoreductase is mainly for the transferring of electrons within the mitochondrial in the respiratory chain (Garmier et.al, 2008). When the respiratory chain is not…

Introduction Phenylalanine hydroxylase (PAH) deficiency is an autosomal recessive disorder also know as phenylketonuria (PKU). (1,2,3) This disease results from mutations in the phenylalanine hydroxylase gene, making the body unable to utilize the amino acid phenylalanine properly. (1) Phenylalanine hydroxylase converts phenylalanine to tyrosine. Without adequate phenylalanine hydroxylase levels, phenylalanine accumulates which can lead to toxic levels in the blood. Buildup of phenylalanine can…

antibodies that act against the cells. What could cause the body’s immune system to turn against its own red blood cells? Sometimes the cause is unknown, but at times the destruction occurs for no known reason within the autoimmune hemolytic anemia disorder. The disorder is also called idiopathic autoimmune hemolytic anemia since the exact cause of this disease cannot be determined and it is the primary disease. Autoimmune hemolytic anemia also can become secondary to another disease, such as…

Recently a large cohort of naturally-occurring LVH cases and SD in captive rhesus macaques was identified by antemortem and postmortem evaluation. These monkeys present clinical and pathologic entities resembling HCM in humans.[101, 102] In addition, case reports of LVH-related SD have been documented in other non-human primates such as owl monkeys (aotus spp.), captive western lowland gorillas (Gorilla gorilla gorilla), and captive chimpanzees (Pan troglodytes). In the cohort of rhesus macaques…

receptors, or defects in the handling of cholesterol in the cell that are genetically determined” (Porth, 2011, p. 407). Secondary hyperlipidemia is initiated by other diseases such as: “diabetes, renal disorders, liver disorders, and Cushing syndrome” (Porth, 2011, p. 404). Lifestyle factors that can cause hyperlipidemia to manifest are alcohol consumption, estrogen administration, and other drug-associated factors…