Sex limited ahaptoglobinaemia.
Hypohaptoglobinaemia and ahaptoglobinaemia occurred in three generations, mainly to male members of a family. Also small amounts of haptoglobin were detected in most of the female relatives. Haemolytic anaemia seemed likely and the glucose 6 phosphate dehydrogenase (G.6.P.D.) activity was normal. The probable genotype of these apparently healthy individuals was Hp2/Hp2. These preliminary data might suggest a defect in control of gene expression by steroid hormones.
D000483:Alleles; D003241:Consanguinity; D005260:Female; D008040:Genetic Linkage; D006242:Haptoglobins / Q000172:deficiency*; D006801:Humans; D008297:Male; D010375:Pedigree; D010641:Phenotype; D012730:Sex Chromosomes; D014960:X Chromosome
D006242:Haptoglobins