학술논문
Two new unstable haemoglobins leading to chronic haemolytic anaemia: Hb Caruaru [ β122 (GH5) Phe→Ser], a probable case of germ line mutation, and Hb Olinda [ β22 (B4) - 25 (B7)], a deletion of a 12 base-pair sequence.
Document Type
Article
Author
Source
Subject
*HEMOGLOBINS
*BLOOD diseases
*HEMOLYTIC anemia
*GENETIC mutation
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Language
ISSN
0902-4441
Abstract
We describe here two new unstable β-globin variants, Hb Caruaru and Hb Olinda, found in northeastern Brazil, both associated with chronic haemolytic anaemia. Haemoglobin Caruaru is caused by a single base substitution at codon 122 (T C→T C), possibly originating from the germ line cells of the patient’s grandmother. Haemoglobin Olinda is also a de novo mutation, caused by a 12 bp deletion leading to the removal of the 22nd to the 25th residues of the normal β-globin chain. [ABSTRACT FROM AUTHOR]