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ATR Achilles tendon reflex; alpha-thalassemia-mental retardation [syndrome]
ATRX, ATR-X X-linked alpha-thalassemia mental retardation [syndrome]
S/b sickle cell beta-thalassemia
ST esotropia; scala tympani; scaphotrapezoid; sclerotherapy; sedimentation time; semitendinosus; sensor...
S-T [segment] in electrocardiography, the portion of the segment between the end of the S wave and the b...
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TM Beta-thalassemia major
TI Thalassemia Intermedia
TM Thalassemia Major
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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)
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)
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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