Molecular characterization of a rare hemoglobin variant: Hb-Hinsdale: beta139(H17)ASN-->Lys.

Abstract:

:The authors describe the characteristics of a rare hemoglobin mutant found in a young female. She carries the aminoacid replacement of Hb-Hinsdale:beta139(H17)ASN-->Lys, which was identified at molecular level. This case, clinically and hematologically symptomless, is identical, but genetically independent, to the cases first described in an American family.

journal_name

Minerva Med

journal_title

Minerva medica

authors

Degani V,Leone D,Murtas R,De Angelis S,Rabino-Massa E

keywords:

subject

Has Abstract

pub_date

2001-02-01 00:00:00

pages

57-9

issue

1

eissn

0026-4806

issn

1827-1669

journal_volume

92

pub_type

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