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Publication : Polycythaemia (Hbb<sup>c</sup>).

First Author  Peters J Year  1982
Journal  Mouse News Lett Volume  67
Pages  19 Mgi Jnum  J:13920
Mgi Id  MGI:62098 Citation  Peters J, et al. (1982) Polycythaemia (Hbbc). Mouse News Lett 67:19
abstractText  Full text of MNL contribution: Polycythaemia (Hbb<c>). In a search for electrophoretically detectable gene mutations induced by ethylnitrosourea, a mutation at Hbb, haemoglobin Beta-chain, has been found which leads to an increase in the anodal electrophoretic mobility of the diffuse major haemoglobin band. In both homozygotes and heterozygotes for the mutation the oxygen affinity of the haemoglobin is increased. Oxygen affinity has been expressed in terms of P>50<, the oxygen tension at which haemoglobin is half saturated, and there is an inverse relationship between P>50< and oxygen affinity. Genotype: Hbb<c>/Hbb<c>; n: 5; P>50<: 11.4 +/- 1.1 Genotype: Hbb<c>/Hbb<d>; n:5;.P>50<: 26.0 +/- 0.7 Genotype: Hbb<d>/Hbb<d >; n: 5; P>50<: 45.4 +/- 1.3 The high affinity of haemoglobin for oxygen in the mutant homozygote and heterozygote means that oxygen is given up to the tissues less readily than normal. This leads to a polycythaemia (increase in red cell mass) for in mutant homozygotes there is a marked increase in red cell number, packed cell volume, and blood haemoglobin. All these features are characteristic of polycythaemia. Heterozygotes have intermediate values. Genotype: Hbb<c>/Hbb<c>; RBC x 10<-9> ml<-1>: 14.814.8 +/- 1.2; PCV (%): 74.8 +/- 1.1; Hb (g.dl<-1>L 25.2 +/- 0.8 Genotype: Hbb<c>/Hbb<d> and Hbb<c>/Hbb<s>; RBC x 10<-9> ml<-1>: 11.4 +/- 0.4; PCV(%): 55.2 +/- 0.2; Hb (g.dl<-1>): 19.1 +/- 0.2 NORMAL RANGE Genotype: Hbb<d>/Hbb<d> and Hbb<s>/Hbb<s>; RBC x 10<-9> ml<-1>: 8.8 - 10.5; PCV(%): 39.5 - 50.6; Hb (g.dl<-1>): 12.2 - 15.0 (Peters, Loutit, Andrews)
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