Summary
Hypohaptoglobinaemia and ahaptoglobinaemia occurred in three generations, mainly to male members of a family. Also small amounts of haptolobin were detected in most of the female relatives. Haemolytic anaemia seemed unlikely and the glucose 6 phosphate dehydrogenase (G.6.P.D.) activity was normal. The probable genotype of these apparently healthy individuals was Hp 2/Hp 2. These preliminary data might suggest a defect in control of gene expression by steroid hormones.
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Lefranc, G., Lefranc, MP., Seger, J. et al. Sex limited ahaptoglobinaemia. Hum Genet 58, 294–297 (1981). https://doi.org/10.1007/BF00294926
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DOI: https://doi.org/10.1007/BF00294926