| MEN | Multiple Endocrine Neoplasia ; AD Trait 1. MEN Type I(= Wermer Syndro... |
|---|---|
| PBT | Paul-Bunnell test; phenacetin breath test; piebald trait; profile-based therapy |
| PTD | percutaneous transluminal dilatation; permanent total disability; personality trait disorder; preter... |
| SCT | secretin; sex chromatin test; sexual compatibility test; sickle-cell trait; sperm cytotoxicity; spin... |
| STAI | State Trait Anxiety Inventory |
| beta Thal | beta thalassaemia |
|---|---|
| QTL | Aquantitative trait locus |
| QTL | Quantitative Trait Loci |
| QTLs | Quantitative Trait Loci |
| SCT | Sickle cell trait |
| A2 thalassaemia | Beta thalassaemia, heterozygous state. (05 Mar 2000) |
|---|---|
| alpha thalassaemia | <haematology> A condition characterised by the reduced synthesis of the alpha chain of haemoglobin due to abnormality in one of two or more genes that code for the synthesis of alpha-globin chains. The severity of this condition can vary from mild anaemia to death, depending on the number of genes deleted. Heterozygous state: severe type, thalassaemia minor with 5 to 15% of Hb Barts at birth, only traces of Hb Barts in adult; mild type, 1 to 2% of Hb Barts at birth, not detectable in adult. Homozygous state: severe type, erythroblastosis foetalis and foetal death, only Hb Barts and Hb H present; mild type not clinically defined. See: haemoglobin H. (05 Mar 2000) |
| a thalassaemia intermedia | See: haemoglobin H. (05 Mar 2000) |
| beta-d thalassaemia | Thalassaemia due to a gene that depresses synthesis of both beta-and d-globin chains by the chromosome bearing the abnormal gene. Heterozygous state: thalassaemia minor with Hb F comprising 5 to 30% of total haemoglobin but distributed unevenly among cells, Hb A2 reduced or normal. Homozygous state: moderate anaemia with only Hb F present, no Hb A or Hb A2. Synonym: F thalassaemia. (05 Mar 2000) |
| beta thalassaemia | <haematology> Thalassaemia due to one of two or more genes that depress (partially or completely) synthesis of beta-globin chains by the chromosome bearing the abnormal gene. Heterozygous state (A2 t.): thalassaemia minor with Hb A2 increased, Hb F normal or variably increased, Hb A normal or slightly reduced. Homozygous state: thalassaemia major with Hb A reduced to very low but variable levels, Hb F very high level. A disorder characterised by reduced synthesis of the beta chains of haemoglobin. There is retardation of haemoglobin a synthesis in the heterozygous form (thalassaemia minor), which is asymptomatic, while in the homozygous form (thalassaemia major, cooley's anaemia, mediterranean anaemia, erythroblastic anaemia), which can result in severe complications and even death, haemoglobin a synthesis is absent. (05 Mar 2000) |
| sickle cell-thalassaemia disease | Anaemia, clinically resembling sickle cell anaemia, in which individuals are compound heterozygous for the sickle cell gene and a thalassaemia gene; about 60 to 80% of haemoglobin is Hb S, up to 20% Hb F, and the remainder Hb anaemia. Synonym: sickle cell-thalassaemia disease. (05 Mar 2000) |
| thalassaemia | <haematology> A genetic form of anaemia in which there is abnormality of the globin portion of haemoglobin. Affected individuals cannot synthesise haemoglobin properly, and they produce small, pale, short-lived red blood cells. Widespread in Mediterranean countries. Origin: Gr. Haima = blood (11 Jan 1998) |
| thalassaemia, beta | Also known as thalassaemia major.The clinical picture of this important type of anaemia was first described in 1925 by the paediatrician thomas benton cooley. Other names for the disease are cooley's anaemia and mediterranean anaemia. The name thalassaemia was coined by the nobel prise winning pathologist george whipple and the professor of paediatrics wm bradford at u. Of rochester because thalassa in greek means the sea (like the mediterrranean sea) + -aemia means in the blood so thalassaemia means sea in the blood. Thalassaemia is not just one disease. It is a complex contingent of genetic (inherited) disorders all of which involve underproduction of haemoglobin, the indispensable molecule in red blood cells that carries oxygen. The globin part of normal adult haemoglobin is made up of 2 alpha and 2 beta polypeptide chains. In beta thalassaemia, there is a mutation (change) in both beta globin chains leading to underproduction (or absence) of beta chains, underproduction of haemoglobin, and profound anaemia. The gene for beta thalassaemia is relatively frequent in people of mediterranean origin (for example, from italy and greece). Children with this disease inherit one gene for it from each parent. The parents are carriers (heterozygotes) with just one thalassaemia gene, are said to have thalassaemia minor, and are essentially normal. Their children affected with beta thalassaemia seem entirely normal at birth because at birth we still have predominantly foetal haemoglobin which does not contain beta chains. The anaemia surfaces in the first few months after birth and becomes progressively more severe leading to pallor and easy fatiguability, failure to thrive (grow), bouts of fever (due to infections) and diarrhoea. Treatment based on blood transfusions is helpful but not curative. Gene therapy will, it is hoped, be applicable to this disease. (12 Dec 1998) |
| thalassaemia intermedia | A clinical variant of thalassaemia characterised by an intermediate degree of severity. These patients have severe anaemia but usually do not require regular blood transfusions. Intermedia disorders represented a heterogeneous group of genetic disorders and may include cases with homozygous or heterozygous abnormalities in the beta-globin chain gene. (05 Mar 2000) |
| thalassaemia major | The dire disease also known as beta thalassaemia. The clinical picture of this form of anaemia was first described in 1925 by the paediatrician thomas benton cooley. Other names for the disease are cooley's anaemia and mediterranean anaemia. The term thalassaemia was coined by the nobel prise winning pathologist george whipple and the professor of paediatrics william bradford at u. Of rochester because thalassa in greek means the sea (like the mediterrranean sea) + -aemia means in the blood so thalassaemia means sea in the blood. Thalassaemia is not just one disease. It is a complex contingent of genetic (inherited) disorders all of which involve underproduction of haemoglobin, the indispensable molecule in red blood cells that carries oxygen. The globin part of normal adult haemoglobin is made up of 2 alpha and 2 beta polypeptide chains. In beta thalassaemia, there is a mutation (change) in both beta globin chains leading to underproduction (or absence) of beta chains, underproduction of haemoglobin, and profound anaemia. The gene for beta thalassaemia is relatively frequent in people of mediterranean origin (for example, from italy and greece). Children with this disease inherit one gene for it from each parent (and so are said to be homozygous for beta thalassaemia). The parents are carriers (heterozygotes) with just one thalassaemia gene, are said to have thalassaemia minor, and are essentially normal. Their children affected with beta thalassaemia seem entirely normal at birth (because at birth we still have predominantly foetal haemoglobin which does not contain beta chains) but the anaemia emerges in the first few months of life and becomes progressively more severe leading to pallor and easy fatiguability, failure to thrive (grow), bouts of fever (due to infections) and diarrhoea. Treatment based on blood transfusions is helpful but not curative. Gene therapy will, it is hoped, be applicable to this disease. (12 Dec 1998) |
| thalassaemia minor | Also called thalassaemia trait, thalassaemia minor is the carrier state for beta thalassaemia. People who are carriers (heterozygotes) have just one thalassaemia gene, are said to have thalassaemia minor, and are essentially normal. (12 Dec 1998) |
| F thalassaemia | Thalassaemia due to a gene that depresses synthesis of both beta-and d-globin chains by the chromosome bearing the abnormal gene. Heterozygous state: thalassaemia minor with Hb F comprising 5 to 30% of total haemoglobin but distributed unevenly among cells, Hb A2 reduced or normal. Homozygous state: moderate anaemia with only Hb F present, no Hb A or Hb A2. Synonym: F thalassaemia. (05 Mar 2000) |
| Lepore thalassaemia | Thalassaemia syndrome due to production of abnormally structured Lepore haemoglobin. Heterozygous state: thalassaemia minor with about 10% of Hb Lepore, Hb F moderately increased, Hb A2 normal. Homozygous state: thalassaemia major with only Hb F and Hb Lepore produced, no Hb A or Hb A2. (05 Mar 2000) |
| Bombay trait | A rare recessive trait at a locus that ordinarily manufactures H substance, the precursor from which the A and B phenotypes are elaborated; the mutant causes failure to produce H substance and no matter what the genotype at the ABO locus, the phenotype is O. The Bombay phenomenon is epistatic to the ABO locus. Origin: Bombay, India, where first reported (05 Mar 2000) |
| galtonian trait | A quantitative genetic trait due to contributions from many more of less equally important loci that resembles a continuous trait. (05 Mar 2000) |
제품명 |
판매사 |
보험코드 | 성분/함량 | 구분/보험급여 |
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제품명 |
판매사 |
보험코드 | 성분/함량 | 구분/보험급여 |
|---|