Hb Bicêtre or alpha 2 beta(2)63(E7)His----Pro in a white male: clinical observations over a period of 25 years
- PMID:3753631
- DOI: 10.1002/ajh.2830210210
Hb Bicêtre or alpha 2 beta(2)63(E7)His----Pro in a white male: clinical observations over a period of 25 years
Abstract
A description is given of clinical observations over a period of 25 years for a 26-year-old white male with a heterozygosity for the beta-chain variant, Hb Bicêtre, in which beta 63His is replaced by Pro. The variant was identified through analysis of tryptic peptides from a digest of the beta X-chain isolated by PCMB precipitation and purified by chromatography. Similarity between the clinical histories of the first (French) heterozygote and our patient was most striking, including improvement after splenectomy.
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