Hb Madrid [β115(G17)Ala→Pro] in a Korean Family with Chronic Hemolytic Anemia

Hb Madrid, in which the alanine residue at beta115 (G17) is replaced by proline, results in a moderately severe hemolytic anemia due to the disruption of an alpha helical region and the weakening of an alpha1 beta1 contact (1,2). It was first discovered in a single Spanish patient, by protein struct...

Full description

Saved in:
Bibliographic Details
Published in:Hemoglobin 2000-01, Vol.24 (2), p.133-138
Main Authors: Kim, J. Y., Park, S. S., Jung, H. L., Keum, D. H., Park, H., Chang, Y. H., Lee, Y. J., Cho, H. I.
Format: Article
Language:English
Subjects:
Adolescent
Adult
Anemia, Hemolytic - blood
Anemia, Hemolytic - genetics
Anemia, Hemolytic - therapy
Blood Transfusion
Chronic Disease
DNA Mutational Analysis
Family Health
Fathers
Hematologic Tests
Hemoglobins - analysis
Hemoglobins - metabolism
Hemoglobins, Abnormal - chemistry
Hemoglobins, Abnormal - genetics
Humans
Korea
Male
Nuclear Family
Pedigree
Splenectomy
Citations: Items that this one cites
Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary:Hb Madrid, in which the alanine residue at beta115 (G17) is replaced by proline, results in a moderately severe hemolytic anemia due to the disruption of an alpha helical region and the weakening of an alpha1 beta1 contact (1,2). It was first discovered in a single Spanish patient, by protein structural analysis, whose parents did not carry the abnormality (1). The second observation of Hb Madrid was in an American Black teenager by DNA analysis, who had the family history of chronic hemolytic anemia, but none of family members were available for evaluation (3).
ISSN:0363-0269
1532-432X
DOI:10.3109/03630260009003432