Hb bicětre or α2β263(E7)His → pro in a white male: Clinical observations over a period of 25 years

D. R. Miller; J. B. Wilson; A. Kutlar; T. H.J. Hulsman

doi:10.1002/ajh.2830210210

Hb bicětre or α₂β₂63(E7)His → pro in a white male: Clinical observations over a period of 25 years

D. R. Miller, J. B. Wilson, A. Kutlar, T. H.J. Hulsman

Pulmonary Disease

Research output: Contribution to journal › Article › peer-review

3 Scopus citations

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 β‐chain variant, Hb Bicětre, in which β63His is replaced by Pro. The variant was identified through analysis of tryptic peptides from a digest of the β^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.

Original language	English (US)
Pages (from-to)	209-214
Number of pages	6
Journal	American Journal of Hematology
Volume	21
Issue number	2
DOIs	https://doi.org/10.1002/ajh.2830210210
State	Published - Feb 1986

Keywords

HPLC
Heinz bodies
His → Pro substitution
hemolytic anemia
unstable Hb

ASJC Scopus subject areas

Hematology

Access to Document

10.1002/ajh.2830210210

Cite this

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title = "Hb bic{\v e}tre or α2β263(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 β‐chain variant, Hb Bic{\v e}tre, in which β63His is replaced by Pro. The variant was identified through analysis of tryptic peptides from a digest of the βX‐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.",

keywords = "HPLC, Heinz bodies, His → Pro substitution, hemolytic anemia, unstable Hb",

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T1 - Hb bicětre or α2β263(E7)His → pro in a white male

T2 - Clinical observations over a period of 25 years

AU - Miller, D. R.

AU - Wilson, J. B.

AU - Kutlar, A.

AU - Hulsman, T. H.J.

PY - 1986/2

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N2 - 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 β‐chain variant, Hb Bicětre, in which β63His is replaced by Pro. The variant was identified through analysis of tryptic peptides from a digest of the βX‐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.

AB - 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 β‐chain variant, Hb Bicětre, in which β63His is replaced by Pro. The variant was identified through analysis of tryptic peptides from a digest of the βX‐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.

KW - HPLC

KW - Heinz bodies

KW - His → Pro substitution

KW - hemolytic anemia

KW - unstable Hb

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