| beta Thal | beta thalassaemia |
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| 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) |
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| haemoglobin Anti-Lepore | A group of abnormal haemoglobins similar to haemoglobin Lepore. These haemoglobins have normal a chains, but the non-a chain consists of the N-terminal portion of the b chain joined to the C-terminal portion of the d chain. This is the opposite crossing over pattern observed in haemoglobin Lepore. Examples of haemoglobin Anti-Lepore include HbMiyada, Hb PCongo, Hb PNilotic, and HbLincoln Park. There is also one variant that is both haemoglobin Lepore and haemoglobin Anti-Lepore (HbParchman). Compare: haemoglobin Lepore. (05 Mar 2000) |
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| haemoglobin Lepore | A group of abnormal Hb's with normal a chains, but the non-a chains consist of the N-terminal portion of the d chain joined to the C-terminal portion of the b chain, apparently as the result of nonhomologous pairing and crossing over between the genes for b and d chains. The major types are Hb LeporeBoston (identical to Hb LeporeWashington), Hb LeporeHollandia, and Hb LeporeBaltimore, which differ in the region of crossing over (d87-b116, d22-b50, and d50-b86, respectively). Heterozygotes form about 10% Hb Lepore, normal amounts of Hb A2, and moderately increased amounts of Hb F and usually have mild anaemia, microcytosis, and hypochromia; homozygotes form only Hb Lepore and Hb F and have severe anaemia. Compare: haemoglobin Anti-Lepore. (05 Mar 2000) |
| Lepore haemoglobin | <haematology> Variant haemoglobin in a rare form of thalassaemia: there is a composite _ _ chain as a result of an unequal crossing over event. The composite chain is functional but synthesised at reduced rate. (18 Nov 1997) |
| 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) |
제품명 |
판매사 |
보험코드 | 성분/함량 | 구분/보험급여 |
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제품명 |
판매사 |
보험코드 | 성분/함량 | 구분/보험급여 |
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