Hb Bicêtre or alpha 2 beta(2)63(E7)His----Pro in a white male: clinical observations over a period of 25 years.
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.
D000328:Adult; D000595:Amino Acid Sequence; D000743:Anemia, Hemolytic / Q000097:blood* / Q000473:pathology; D005914:Globins; D006455:Hemoglobins, Abnormal; D006358:Hot Temperature; D006801:Humans; D008297:Male; D010446:Peptide Fragments / Q000032:analysis; D011489:Protein Denaturation; D013154:Spleen / Q000473:pathology; D013156:Splenectomy
D006455:Hemoglobins, Abnormal; D010446:Peptide Fragments; C047555:hemoglobin Bicetre; D005914:Globins