James Herrick is credited with the description of a genetic disease in which red-blood cells are in what shape instead of the normal disc shape?
"has approximately 250 mg of iron, with each successive transfusion, patients receiving chronic transfusion therapy accumulate iron in various tissues in the body as the body has no way to excrete the excess, this is a cause of increased morbidity and mortality. The effects of iron overload are countered by chelation therapy Transfusion therapy (Sickle-cell disease) Red blood cells (erythrocytes) from donors contain normal hemoglobin (HbA), and transfusion of normal red blood cells into people with sickle cell disease reduces the percentage of red cells in the circulation containing the abnormal hemoglobin (HbS). Although transfusion of donor red blood cells"
"gene therapy. Hereditary spherocytosis Hereditary spherocytosis (also known as Minkowski–Chauffard syndrome) is an abnormality of red blood cells, or erythrocytes. The disorder is caused by mutations in genes relating to membrane proteins that allow for the erythrocytes to change shape. The abnormal erythrocytes are sphere-shaped (spherocytosis) rather than the normal biconcave disk shaped. Dysfunctional membrane proteins interfere with the cell's ability to be flexible to travel from the arteries to the smaller capillaries. This difference in shape also makes the red blood cells more prone to rupture. Cells with these dysfunctional proteins are degraded in the spleen. This shortage of"
"Hereditary spherocytosis Hereditary spherocytosis (also known as Minkowski–Chauffard syndrome) is an abnormality of red blood cells, or erythrocytes. The disorder is caused by mutations in genes relating to membrane proteins that allow for the erythrocytes to change shape. The abnormal erythrocytes are sphere-shaped (spherocytosis) rather than the normal biconcave disk shaped. Dysfunctional membrane proteins interfere with the cell's ability to be flexible to travel from the arteries to the smaller capillaries. This difference in shape also makes the red blood cells more prone to rupture. Cells with these dysfunctional proteins are degraded in the spleen. This shortage of erythrocytes results"
"the red blood cells, which causes these cells to assume a sickle shape, especially when under low oxygen tension. Sickling and sickle cell disease also confer some resistance to malaria parasitization of red blood cells, so that individuals with sickle-cell trait (heterozygotes) have a selective advantage in environments where malaria is present. Sickle cell trait is a hemoglobin genotype AS and is generally regarded as a benign condition. However, individuals with sickle cell trait may have rare complications. For example, in November 2010, Dr. Jeffery K. Taubenberger of the National Institutes of Health discovered the earliest proof of sickle-cell disease"
"Hereditary elliptocytosis Hereditary elliptocytosis, also known as ovalocytosis, is an inherited blood disorder in which an abnormally large number of the patient's erythrocytes (i.e. red blood cells) are elliptical rather than the typical biconcave disc shape. Such morphologically distinctive erythrocytes are sometimes referred to as elliptocytes or ovalocytes. It is one of many red-cell membrane defects. In its severe forms, this disorder predisposes to haemolytic anaemia. Although pathological in humans, elliptocytosis is normal in camelids. A number of genes have been linked to common hereditary elliptocytosis (many involve the same gene as forms of Hereditary spherocytosis, or HS): These mutations"
"Chorea acanthocytosis Chorea-acanthocytosis (ChAc, also called Choreoacanthocytosis), is a rare hereditary disease caused by a mutation of the gene that directs structural proteins in red blood cells. It belongs to a group of four diseases characterized under the name Neuroacanthocytosis. When a patient's blood is viewed under a microscope, some of the red blood cells appear thorny. These thorny cells are called acanthocytes. Other effects of the disease may include epilepsy, behaviour changes, muscle degeneration, and neuronal degradation similar to Huntington's disease. The average age of onset of symptoms is 35 years. The disease is incurable and inevitably leads to"
"in people living in tropical areas where malaria is prevalent, is a hereditary blood disorder characterized by rigid, sickle-shaped red blood cells.. The unusual shape and rigidity of these altered red blood cells reduces a cell’s ability to effectively travel with regular blood flow, occasionally blocking veins and preventing proper blood flow. Life expectancy is shortened for people with sickle-cell disease, though modern medicine has significantly lengthened the life expectancy of someone with this disease. As detrimental as the effects of sickle-cell disease seem, it also offers an unforeseen benefit; humans with the sickle-cell gene show less severe symptoms when"
"polymers of HbS distort the shape of the red blood cell from a smooth doughnut-like shape to ragged and full of spikes, making it fragile and susceptible to breaking within capillaries. Carriers have symptoms only if they are deprived of oxygen (for example, while climbing a mountain) or while severely dehydrated. The allele responsible for sickle cell anaemia can be found on the short arm of chromosome 11, more specifically 11p15.5. A person who receives the defective gene from both father and mother develops the disease; a person who receives one defective and one healthy allele remains healthy, but can"
"for cardiomyopathy. Chorea acanthocytosis Chorea-acanthocytosis (ChAc, also called Choreoacanthocytosis), is a rare hereditary disease caused by a mutation of the gene that directs structural proteins in red blood cells. It belongs to a group of four diseases characterized under the name Neuroacanthocytosis. When a patient's blood is viewed under a microscope, some of the red blood cells appear thorny. These thorny cells are called acanthocytes. Other effects of the disease may include epilepsy, behaviour changes, muscle degeneration, and neuronal degradation similar to Huntington's disease. The average age of onset of symptoms is 35 years. The disease is incurable and inevitably"
"disorder in the country. The first modern report of sickle cell disease may have been in 1846, where the autopsy of an executed runaway slave was discussed; the key findings was the absence of the spleen. There were also reports amongst African slaves in the United States exhibiting resistance to malaria but being prone to leg ulcers. The abnormal characteristics of the red blood cells, which later lent their name to the condition, was first described by Ernest E. Irons (1877–1959), intern to the Chicago cardiologist and professor of medicine James B. Herrick (1861–1954), in 1910. Irons saw ""peculiar elongated"
"3255 BCE. These cells were discovered in May 2012. Red blood cell Red blood cells, also known as RBCs, red cells, red blood corpuscles, haematids, erythroid cells or erythrocytes (from Greek ""erythros"" for ""red"" and ""kytos"" for ""hollow vessel"", with ""-cyte"" translated as ""cell"" in modern usage), are the most common type of blood cell and the vertebrate's principal means of delivering oxygen (O) to the body tissues—via blood flow through the circulatory system. RBCs take up oxygen in the lungs, or gills of fish, and release it into tissues while squeezing through the body's capillaries. The cytoplasm of erythrocytes"
"It is due to a mutation in the hemoglobin gene leading to sickle shape formation of red blood cells, causing clotting in blood vessels, restricted blood flow, and reduced oxygen transport. At the same time, the mutation confers resistance to malaria, caused by ""Plasmodium"" parasites, which are passed off in red blood cells after transmission to humans by mosquitoes. Hence, homozygote and heterozygote genotypes for the sickle-cell disease allele show malaria resistance, while the homozygote suffers from severe disease phenotype. The alternative homozygote, which does not carry the sickle cell disease allele, is susceptible to infection by ""Plasmodium"". As a"
"Poikilocytosis Poikilocytosis is variation in cell shape: poikilocytes may be oval, teardrop-shaped, sickle-shaped or irregularly contracted. Normal red blood cells are round, flattened disks that are thinner in the middle than at the edges. A ""poikilocyte"" is an abnormally shaped cell. Generally, poikilocytosis can refer to an increase in abnormal red blood cells of any shape where they make up 10% or more of the total population. In all cases, the treatment of poikilocytosis depends on its cause. For example, poikilocytosis can be caused by a vitamin deficiency (e.g. vitamin B, folic acid), in which case the treatment is to"
"that undergo leukemic transformation (5-10%) significantly reduce life expectancy. Sideroblastic anemia Sideroblastic anemia or sideroachrestic anemia is a form of anemia in which the bone marrow produces ringed sideroblasts rather than healthy red blood cells (erythrocytes). In sideroblastic anemia, the body has iron available but cannot incorporate it into hemoglobin, which red blood cells need in order to transport oxygen efficiently. The disorder may be caused either by a genetic disorder or indirectly as part of myelodysplastic syndrome, which can develop into hematological malignancies (especially acute myeloid leukemia). Sideroblasts (""sidero-"" + ""-blast"") are nucleated erythroblasts (precursors to mature red blood"
"Echinocyte Echinocyte (from the Greek word ""echinos"", meaning 'hedgehog' or 'sea urchin'), in human biology and medicine, refers to a form of red blood cell that has an abnormal cell membrane characterized by many small, evenly spaced thorny projections. A more common term for these cells is burr cells. Echinocytes are frequently confused with acanthocytes, but the mechanism of cell membrane alteration is different. Echinocytosis is a reversible condition of red blood cells that is often merely an artifact produced by EDTA, which is used as an anticoagulant in sampled blood. Echinocytes can be distinguished from acanthocytes by the shape"
"gene. The characteristic leukocyte appearance was first reported in 1928 by Karel Pelger (1885-1931), a Dutch Hematologist, who described leukocytes with dumbbell-shaped bilobed nuclei, a reduced number of nuclear segments, and coarse clumping of the nuclear chromatin. In 1931, Gauthier Jean Huet (1879-1970), a Dutch Pediatrician, identified it as an inherited disorder. It is a genetic disorder with an autosomal dominant inheritance pattern. Heterozygotes are clinically normal, although their neutrophils may be mistaken for immature cells, which may cause mistreatment in a clinical setting. Homozygotes tend to have neutrophils with rounded nuclei that do have some functional problems. Homozygous individuals"
"myelodysplasia, HIV infection, and certain medications (e.g. zidovudine). Dyserythropoiesis Dyserythropoiesis refers to the defective development of red blood cells, also called erythrocytes. This problem can be congenital, acquired, or inherited. Some red blood cells may be destroyed within the bone marrow during the maturation process, whereas others can enter the circulation with abnormalities. These abnormalities can be functional and/or morphological, which can lead to anemia since there may be increased turnover of red blood cells. There are a number of diseases that cause dyserythropoiesis. Congenital/inherited causes include congenital dyserythropoietic anemia, thalassemia, pyruvate kinase deficiency, hereditary pyropoikilocytosis, and abetalipoproteinemia. Acquired causes"
"Sideroblastic anemia Sideroblastic anemia or sideroachrestic anemia is a form of anemia in which the bone marrow produces ringed sideroblasts rather than healthy red blood cells (erythrocytes). In sideroblastic anemia, the body has iron available but cannot incorporate it into hemoglobin, which red blood cells need in order to transport oxygen efficiently. The disorder may be caused either by a genetic disorder or indirectly as part of myelodysplastic syndrome, which can develop into hematological malignancies (especially acute myeloid leukemia). Sideroblasts (""sidero-"" + ""-blast"") are nucleated erythroblasts (precursors to mature red blood cells) with granules of iron accumulated in the mitochondria"
"researchers have found that cells with hemangioblast properties have been located in the posterior end of the primitive streak during gastrulation. In 1917, Florence Sabin first observer of blood vessels and red blood cells in the yolk sac of chick embryos occur in close proximity and time. Then, in 1932, Murray detected the same event and created the term ""hemangioblast"" for what Sabin had seen. Further evidence to corroborate hemangioblasts come from the expression of various genes such as CD34 and Tie2 by both lineages. The fact that this expression was seen in both EC and HPC lineages led researchers"
"to increase scientific understanding of these disorders as well to identify prevention and treatment methods. Known genetic mutations provide a basis for studying some of the conditions. Neuroacanthocytosis Neuroacanthocytosis is a label applied to several neurological conditions in which the blood contains misshapen, spiculated red blood cells called acanthocytes. The 'core' neuroacanthocytosis syndromes, in which acanthocytes are a typical feature, are chorea acanthocytosis and McLeod syndrome. Acanthocytes are seen less frequently in other conditions including Huntington's disease-like syndrome 2 (HDL2) and pantothenate kinase-associated neurodegeneration (PKAN). The neuroacanthocytosis syndromes are caused by a range of genetic mutations and produce a variety"
"of hemoglobin at the rim of the cell. Round macrocytes which are not codocytes are produced in chronic alcoholism (which produces a mild macrocytosis even in the absence of vitamin deficiency), apparently as a direct toxic effect of alcohol specifically on the bone marrow. Mild macrocytosis is a common finding associated with rapid blood restoration or production, since in general, ""fresh"" or newly produced red cells (reticulocytes) are larger than the mean (average) size, due to slow shrinkage of normal cells over a normal red cell circulating lifetime. Thus, chronic obstructive pulmonary disease (COPD), in which red cells are rapidly"
"that causes sickle cell, which is a disorder in which red blood cells break down and become abnormally shaped. Hemoglobin S has two beta chains, whereas hemoglobin Hopkins-2 has two alpha chains. Hopkins-2 makes up 22% of hemolysates in single heterozygotes; therefore, there is the normal version of the gene in these patients. Hemolysates are the products of the destruction of red blood cells. Ho-2 also comprises 11% of hemolysates in ‘double’ heterozygotes, which are when the gene contains both Hopkins-2 and Hemoglobin S. There are currently multiple possible explanations as to how the Hemoglobin variant Hopkins-2 works. One explanation"
"cell disease have a modified form of hemoglobin in their red blood cells, and that individuals with sickle cell trait have both the normal and abnormal forms of hemoglobin. This was the first demonstration causally linking an abnormal protein to a disease, and also the first demonstration that Mendelian inheritance determines the specific physical properties of proteins, not simply their presence or absence – the dawn of molecular genetics. His success with sickle cell anemia led Pauling to speculate that a number of other diseases, including mental illnesses such as schizophrenia, might result from flawed genetics. As chairman of the"
"cell crises. The peripheral smear demonstrates mostly target cells and only a few sickle cells. However, persons with hemoglobin SC disease (HbSC) have more significant retinopathy, ischemic necrosis of bone, and priapism than those with pure SS disease. People with hemoglobin C trait, or hemoglobin C carriers, have one gene for HbC and one normal gene. Their red blood cells contain both normal hemoglobin A and also hemoglobin C. People with hemoglobin C trait have slightly more hemoglobin A than hemoglobin C in their cells. Hemoglobin C disease is an autosomal recessive disorder that results from the biparental inheritance of"
"A case report for the first person treated was published in March 2017. Sickle cell disease Sickle cell disease (SCD) is a group of blood disorders typically inherited from a person's parents. The most common type is known as sickle cell anaemia (SCA). It results in an abnormality in the oxygen-carrying protein haemoglobin found in red blood cells. This leads to a rigid, sickle-like shape under certain circumstances. Problems in sickle cell disease typically begin around 5 to 6 months of age. A number of health problems may develop, such as attacks of pain (""sickle cell crisis""), anemia, swelling in"
"Hermansky–Pudlak syndrome Heřmanský–Pudlák syndrome (often written Hermansky–Pudlak syndrome or abbreviated HPS) is an extremely rare autosomal recessive disorder which results in oculocutaneous albinism (decreased pigmentation), bleeding problems due to a platelet abnormality (platelet storage pool defect), and storage of an abnormal fat-protein compound (lysosomal accumulation of ceroid lipofuscin). It is considered to affect around 1 in 500,000 people worldwide, with a significantly higher occurrence in Puerto Ricans, with a prevalence of 1 in 1800. Many of the clinical research studies on the disease have been conducted in Puerto Rico. There are eight classic forms of the disorder, based on the"
"Erdheim–Chester disease Erdheim–Chester disease (also known as Erdheim–Chester syndrome or polyostotic sclerosing histiocytosis) is a rare disease characterized by the abnormal multiplication of a specific type of white blood cells called histiocytes, or tissue macrophages (technically, this disease is termed a non-Langerhans-cell histiocytosis). It was declared a histiocytic neoplasm by the World Health Organization in 2016. Onset typically is in middle age. The disease involves an infiltration of lipid-laden macrophages, multinucleated giant cells, an inflammatory infiltrate of lymphocytes and histiocytes in the bone marrow, and a generalized sclerosis of the long bones. Long bone involvement is almost universal in ECD"
"Hereditary stomatocytosis Hereditary stomatocytosis describes a number of inherited autosomal dominant human conditions which affect the red blood cell, in which the membrane or outer coating of the cell 'leaks' sodium and potassium ions. The cause for these hereditary conditions is now understood to be various mutations in the erythrocyte membrane protein, band 3. It is this protein which mediates the cation leaks which are characteristic of this disease. Osmosis leads to the red blood cell having a constant tendency to swell and burst. This tendency is countered by manipulating the flow of sodium and potassium ions. A 'pump' forces"
"Spherocytosis Spherocytosis is the presence in the blood of spherocytes, i.e erythrocytes (red blood cells) that are sphere-shaped rather than bi-concave disk shaped as normal. Spherocytes are found in all hemolytic anemias to some degree. Hereditary spherocytosis and autoimmune hemolytic anemia are characterized by having ""only"" spherocytes. Spherocytes are found in immunologically-mediated hemolytic anemias and in hereditary spherocytosis, but the former would have a positive direct Coombs test and the latter would not. The misshapen but otherwise healthy red blood cells are mistaken by the spleen for old or damaged red blood cells and it thus constantly breaks them down,"
"Some persons with this disease may develop gallstones that require treatment. Continued hemolysis may produce pigmented gallstones, an unusual type of gallstone composed of the dark-colored contents of red blood cells. Target cells, microspherocytes and HbC crystals are found in a blood smear from a homozygous patient. Individuals with sickle cell–hemoglobin C (HbSC), have inherited the gene for sickle cell disease (HbS) from one parent and the gene for hemoglobin C disease (HbC) from the other parent. Since HbC does not polymerize as readily as HbS, there is less sickling. There are fewer acute vaso-occlusive events and therefore fewer sickle"
"diagnosed and passed away from motor neurone disease, also known as amyotrophic lateral sclerosis (ALS), or Lou Gehrig's disease. Ninety to ninety-five per cent of cases are considered sporadic, occurring randomly in the population. The remaining 5–10% of cases are Familial (Genetic) with one parent carrying the gene. Mutations of more than twelve genes have been found to cause the disease. Using genealogical information Yerbury traced suspected cases of motor neuron disease in his family to at least 1920 and possibly further back. He was prompted to return to university studies to further understand the disease. In 2004 Yerbury obtained"
"Acanthocyte Acanthocyte (from the Greek word ἄκανθα ""acantha"", meaning 'thorn'), in biology and medicine, refers to a form of red blood cell that has a spiked cell membrane, due to abnormal thorny projections. A similar term is spur cells. Often they may be confused with echinocytes or schistocytes. Acanthocytes have coarse, weirdly spaced, variably sized crenations, resembling many-pointed stars. They are seen on blood films in, among others abetalipoproteinemia, liver disease, chorea acanthocytosis, McLeod syndrome, and several inherited neurological and other disorders, such as neuroacanthocytosis, anorexia nervosa, infantile pyknocytosis, hypothyroidism, idiopathic neonatal hepatitis, alcoholism, congestive splenomegaly, Zieve syndrome, and chronic"
"were first observed by Gabriel Andral, a French professor of medicine, and William Addison, a British physician, simultaneously. Both men believed that both red and white cells were altered in disease. With these discoveries, hematology, a new field of medicine, was established. Even though agents for staining tissues and cells were available, almost no advances were made in knowledge about the morphology of blood cells until 1879, when Paul Ehrlich published his technique for staining blood films and his method for differential blood cell counting Blood cell A blood cell, also called a hematopoietic cell, hemocyte, or hematocyte, is a"