Red cell membrane structure the red cell membrane is a composite structure consisting of a lipid bilayer anchored to the spectrinbased membrane skeleton through linking proteins interacting with cytoplasmic domains of membrane proteins embedded in the lipid bilayer. Splenectomy leads to amelioration of anemia by increasing the circulatory red cell life span of spherocytic red cells that are normally sequestered by the spleen. Nov 15, 2008 studies during the past 3 decades on red cells from healthy people and from patients with various inherited red cell disorders have illuminated the molecular processes underlying normal and aberrant red cell membrane function. Red blood cell rbc disorders are conditions that affect red blood cells, the cells of blood that carry oxygen from the lungs to all parts of the body. The membrane proteins exhibit diverse functional heterogeneity, serving as transport proteins, as adhesion proteins involved in interactions of red cells with other blood cells and endothelial cells, as signaling receptors. General considerations of hemolytic diseases, red cell. Red cell membrane disorders are inherited diseases due to mutations in various membrane or skeletal proteins, resulting in decreased red cell deformability, reduced life span and. Abnormal red cell morphology is often an indicator but not necessarily specific for the named red cell disorder figure s1 in appendix a.
Singlegene disorders autosomal dominant disorder abnormal allele is dominant, normal allele is. The red cell membrane is semipermeable and must maintain its volume in order for the erythrocyte to negotiate the narrower spaces in the circulatory system. During incubation for 24 h, the metabolism of the red cell becomes stressed and the pumping mechanisms tend to fail, one factor being a relative lack of glucose in the medium. Red cell membrane disorders are inherited diseases due to mutations in various membrane or skeletal proteins, resulting in decreased red cell deformability. The lipid and proteins of plasma membrane also covalently bound to carbohydrates 15 sugar units glycolipid and glycoprotein which are restricted to the exterior surface and are important for cellcell. Cda ii middle is the control with congenital dyserythropoietic anemia. The red cell membrane download ebook pdf, epub, tuebl, mobi. Hereditary spherocytosis, elliptocytosis, and other red cell. Mcl red cell membrane disorders information mc1235192 subject. Click download or read online button to get the red cell membrane book now. Evaluation of jaundice in adults american academy of. The heterogeneous clinical presentation, biochemical and genetic abnormalities in hs and he have been well documented.
Erythrocyte membrane disorders williams hematology, 9e. Cell membrane diseases are lifethreatening disorders that are genetic in nature, and they usually work against proteins in our body that are key to ion channels and various receptors within the. Pdf advances in understanding the pathogenesis of red cell. Profiling individual human red blood cells using common. Membrane transport exocytosis the cell cycle interphase g 1 phase, s phase, g 2 phase plus mitosis. It is reported worldwide and is the most common inherited anaemia in individuals of. This site is like a library, use search box in the widget to get ebook that you want. Da costa l, et al, hereditary spherocytosis, elliptocytosis, and other red cell membrane disorders, blood rev 20. There are multiple disorders of the red blood cells, including hemoglobinopathies, cytoskeletal abnormalities spherocytosis and other membranopathies and enzymopathies. Studies during the past 3 decades on red cells from healthy people and from patients with various inherited red cell disorders have illuminated the molecular processes underlying normal and. It is reported worldwide and is the most common inherited anaemia in individuals of northern european ancestry. Most newborns with hereditary spherocytosis have severe anemia, although it improves after the first year. Disorders of red cell membrane xiuli an and narla mohandas red cell physiology laboratory, new york blood center, new york, ny, usa summary studies during the last three decades have enabled the development of detailed molecular insights into the structural basis of altered function in various inherited red cell membrane disorders.
Hemoglobinopathies are a group of rare, inherited disorders involving abnormal structure of the hemoglobin molecule. Vitamin b 12 is needed for the production of hemoglobin. Mcl red cell membrane disorders information mc1235192 subject mcl red cell membrane disorders information red cell membrane disorders information accurate interpretation contingent reason referral clinical information ethnic background family. Xa the red cell membrane disorders include alterations in both membrane structural organization and membrane transport function. The blood film shows large oval red cells with a transverse ridge across the central area.
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. Red cell membrane disorder mutations database hereditary spherocytosis, hereditary elliptocytosis, and hereditary pyropoikilocytosis are inherited disorders of the erythrocyte membrane. Red cell membrane disorders hematology american society. Clinical severity is variable with most patients having a wellcompensated haemolytic anaemia. Jan 01, 2005 the hereditary stomatocytosis syndromes are a group of inherited disorders characterized by erythrocytes with a mouthshaped stoma area of central pallor on peripheral blood smear figure 3d. Red blood cell disorders overview danafarberboston childrens.
Inherited red cell membrane defects include hereditary spherocytosis, hereditary elliptocytosis, hereditary stomatocytosis, and pyropoikilocytosis. Disorders of red cell membrane wisconsin alzheimers. People with this condition typically experience a shortage of red blood cells anemia, yellowing of the eyes and skin jaundice, and an. The hereditary stomatocytosis syndromes are a group of inherited disorders characterized by erythrocytes with a mouthshaped stoma area of central pallor on peripheral blood smear figure.
Red cell membrane disorders narla 2017 international. The cause of a red blood cell disorder depends on the condition affecting the cells. As any plasma membrane it mediates transport functions. Abnormalities in these moieties result in red blood cell membrane disorders. Hereditary red cell membrane disorders and laboratory. The hereditary stomatocytosis syndromes are a group of inherited disorders characterized by erythrocytes with a mouthshaped stoma area of central pallor on peripheral blood smear figure 3d.
A red blood cell enzyme disorder should be assumed in hereditary rbc enzyme disorders red blood cell enzyme disorder cases of persistent. A schematic representation of the red cell membrane. Red cell membrane transport in health and disease features contributions from all of these areas, rendering a rather comprehensive treatise. Hereditary disorders of the red cell membrane skeleton. The functional red cell membrane is composed of a cholesterol and phospholipid bilayer anchored by integral proteins to an elastic cytoskeletal network. Red cell volume is maintained by a number of passive, gradientdriven cation and anion channels as well as active transporters. Red cell membrane transport in health and disease features. Pdf hereditary erythrocyte membrane disorders are caused by mutations in genes encoding various transmembrane or cytoskeletal proteins. The pathobiology of the stomatocytic shape is poorly understood and the.
At present, therefore, since hamburgers latter findings stand undisputed, any assump tion of the. Mutations in membrane proteins that lead to loss of either membrane cohesion or decreased membrane mechanical stability account for membrane surface area loss and resultant decreased red cell survival and anemia, a feature of inherited red cell membrane disorders. Hemolytic anemias caused by defective red cell skeleton this category of red cell disorders arises from either a quantitative or a qualitative defect in the membrane proteins constituting the red cell cytoskeleton figure 1a. In each abnormalities of the red cell membrane result in. The membrane is a composite structure in which a plasma membrane envelope. There are multiple disorders of the red blood cells, including hemoglobinopathies, cytoskeletal abnormalities spherocytosis and other membranopathies and. Nov 03, 2017 red cell membrane disorder mutations database hereditary spherocytosis, hereditary elliptocytosis, and hereditary pyropoikilocytosis are inherited disorders of the erythrocyte membrane associated with hemolytic anemia 1,2.
Sep 12, 2010 red cell membrane disorders are inherited diseases due to mutations in various membrane or skeletal proteins, resulting in decreased red cell deformability, reduced life span and premature removal of the erythrocytes from the circulation. Hereditary disorders of the red cell membrane skeleton kevin a. The osmotic fragility of red cells that have an abnormal membrane, such as those of hs and hereditary elliptocytosis he, increases abnormally after incubation fig. The membrane structural organization disorders are hereditary spherocytosis, hereditary elliptocytosis, and hereditary ovalocytosis. The degrees of membrane loss and resultant increases in cell sphericity determine the severity of anemia in these two disorders. Pdf ektacytometry and genetic testing in hereditary red. Aplastic anemia is caused by the inability of the bone marrow to produce blood cells. The designation for each of the hereditary red cell membrane disorders denotes the characteristic red cell morphology expected to be found on the peripheral blood smear of the patient. Scd describes a group of inherited red blood cell disorders. Lux the hereditary hemolytic anemias include a beterogeneous class of disorders caused by defects in the proteins that constitute the membrane skeleton of the red blood cell the combination of clussical and molecular genetics together. Srp i would like to briefly address the pathophysiology of disorders of the red cell membrane spherocytosis, elliptocytosis, ovalocytosis to link the previous discussion to disease.
Several other hereditary disorders of the red blood cell membrane are known. Traditionally, family history, red cell morphological examination, red cell indices, osmotic fragility, flow cytometry, ektacytometry, cell membrane protein electrophoresis, and genomic analysis are used in combination for diagnosing the various red cell membrane disorders. There are many different types of red blood cell disorders, including. People with this condition typically experience a shortage of red blood cells anemia, yellowing of the eyes and skin jaundice, and an enlarged spleen splenomegaly. Some red blood cell disorders, such as iron deficiency anemia, are very common, while others, such as hemolytic disease of the. Sep 05, 2015 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. Membrane transport is a multifaceted topic that can be looked at from various angles. The red cell membrane is one of the best known membranes in terms of structure, function and genetic disorders. Hereditary spherocytosis is caused by lesions in genes encoding proteins involved in the vertical interactions that tether the red cell membrane to the skeleton. Learn vocabulary, terms, and more with flashcards, games, and other study tools.
Red cell membrane disorders narla 2017 international journal. Pdf disorders of the red cell membrane researchgate. Traditionally, family history, red cell morphological examination, red cell indices, osmotic fragility, flow cytometry, ektacytometry. The unique biophysical features of the red cell membrane are that it is highly. Hereditary spherocytosis, elliptocytosis, and other red. There are two inherited red cell membrane disorders due to. Red blood cell disorders overview danafarberboston. They are nonimmune hereditary hemolytic anemia, and patients present with variable degrees of pallor, episodic jaundice, splenomegaly, and elevated lactate dehydrogenase ldh levels. Blueprint genetics red blood cell membrane disorder panel is ideal for patients with a clinical suspicion of elliptocytosis, hereditary spherocytosis or stomatocytosis. Hereditary spherocytosis hs, hereditary elliptocytosis he, and hereditary stomatocytosis hst are inherited red cell disorders caused by defects in various membrane proteins. Lux the hereditary hemolytic anemias include a beterogeneous class of disorders caused by defects in the. Inherited red cell membrane disorders constitute a diverse group of disorders which are characterized by wide clinical and molecular heterogeneity. Hereditary spherocytosis is a common inherited disorder that is characterised by anaemia, jaundice, and splenomegaly.
Shinta o wardhani division of hematology and medical oncology department of internal medicine faculty of medicine brawijaya university saiful anwar general hospital m a l a n g. Hereditary spherocytosis sphere hereditary elliptocytosisellipse, elongated forms hereditary pyropoikilocytosisbizarre red cell forms normal red blood celldiscoid, with membrane flexibility hereditary disorders of red cell cytoskeleton. Pernicious anemia is an autoimmune disease wherein the body lacks intrinsic factor, required to absorb vitamin b 12 from food. Red cell membrane disorders inherited diseases mutations in various membrane or skeletal proteins decreased red cell deformability rigidity, reduced life span and premature removal. Red blood cell membrane disorder panel blueprint genetics. Abnormal glycosylation of red cell membrane band 3 in the. Icsh guidelines for the laboratory diagnosis of nonimmune. Ektacytometry and genetic testing in hereditary red cell membrane disorders. Hereditary spherocytosis is characterized by numerous spherocytes on the pbs right.
The red blood cell rbc membrane is a complex structure consisting of approximately 50% proteins, 40% lipids, and 10% carbohydrates, containing 1012 major proteins and possibly hundreds of minor ones. An algorithmic approach to the evaluation of jaundice in adults. Red cell membrane transport in health and disease ingolf. Disorders of the erythrocyte membrane, including hereditary spherocytosis, hereditary elliptocytosis, hereditary pyropoikilocytosis, and hereditary stomatocytosis. A red blood cell enzyme disorder should be assumed in hereditary rbc enzyme disorders red blood cell enzyme disorder cases of persistent normocytic hemolytic anemia in which hemoglobin abnormal ities and antiglobulin reactions have been cluded,spherocytes are absent, and osmotic fragility is normal. Haematology red cell membrane disorders the features of these disorders and an overview of management. Due to its strong correlation with the pathophysiology of many diseases, information about human red blood cells rbcs has a crucial function in hematology. Red cell membrane disorders challenges in diagnosis. Osmotic fragility an overview sciencedirect topics. Jul 12, 2019 red cell membrane disorders inherited diseases mutations in various membrane or skeletal proteins decreased red cell deformability rigidity, reduced life span and premature removal of rbc characterized by marked clinical and laboratory heterogeneity significant genetic heterogeneity important group of inherited haemolytic anaemias. Red blood cell membrane disorder panel 5 165 28150 28150 286 100 target region and gene list blueprint genetics red blood cell membrane disorder panel version 1, march 9, 2016 consists of. Mutations in genes encod ing membrane proteins that account for these distinct red cell phenotypes have been identified. Hereditary red cell membrane disorders and laboratory diagnostic.
Some individuals are asymptomatic, whereas others have severe. Morphological abnormalities of red blood cells the art. Jul 27, 2017 cell membrane diseases are lifethreatening disorders that are genetic in nature, and they usually work against proteins in our body that are key to ion channels and various receptors within the membrane. Molecular genetics of inherited red cell membrane disorders. Acanthocytosis is typified by contracted, dense erythrocytes with irregular. Morphological abnormalities of red blood cells the art of. Da costa l, et al, hereditary spherocytosis, elliptocytosis. Xa the red cell membrane disorders include alterations in both membrane structural organization and membrane. The red cell membrane disorders include hereditary spherocytosis, hereditary elliptocytosis, hereditary ovalocytosis and hereditary stomatocytosis. Mar 18, 2015 the designation for each of the hereditary red cell membrane disorders denotes the characteristic red cell morphology expected to be found on the peripheral blood smear of the patient.
Hereditary red cell membrane disorders and laboratory diagnostic testing. Red blood cell membrane disorder panel 5 165 28150 28150 286 100 target region and gene list blueprint genetics red blood cell membrane disorder panel version 1, march 9, 2016 consists of sequence analysis of genes associated with elliptocytosis, hereditary spherocytosis and stomatocytosis. Hereditary spherocytosis genetics home reference nih. Hereditary spherocytosis sphere hereditary elliptocytosisellipse, elongated forms hereditary pyropoikilocytosisbizarre red cell forms normal red blood cell. In each abnormalities of the red cell membrane result in hemolysis. Pernicious anemia is an autoimmune disease wherein the body lacks intrinsic factor, required to absorb vitamin b 12 from. Mcl red cell membrane disorders information red cell membrane disorders information accurate interpretation contingent. Hereditary spherocytosis is a condition that affects red blood cells. A large fractionsome 25of transmembrane proteins define the various blood group antigens. Hs patients condition will return to baseline level.
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