Hemoglobin Duarte: (α2β262(E6)Ala→Pro): A New Unstable Hemoglobin With Increased Oxygen Affinity-Reference-Cited by-同舟云学术

Hemoglobin Duarte: (α2β262(E6)Ala→Pro): A New Unstable Hemoglobin With Increased Oxygen Affinity

Published:1974-04-01 Issue:4 Volume:43 Page:527-535
ISSN:0006-4971
Container-title:Blood
language:en
Short-container-title:

Author:

Beutler E.¹²,Lang A.¹³,Lehmann H.¹⁴

Affiliation:

1. Division of Medicine, City of Hope Medical Center, Duarte, Calif. 91010, and the MRC Abnormal Haemoglobin Unit, University Department of Biochemistry, Addenbrooke’s Hospital, Cambridge, England.

2. Department of Hematology. City of Hope Medical Center, Duarte, Calif 910/0; Clinical Professor of Medicine, University of Southern California, Los Angeles. Calif 90033.

3. MRC A bnormal Hemoglobin Unit, University Department of Biochemistry. A ddenbrooke 's Hospital, Cambridge. England.

4. MRC Abnormal Haemoglobin Unit, University Department of Biochemistry. Addenbrooke's Hospital, Cambridge. England.

Abstract

Abstract A patient with a normal blood hemoglobin level, but with evidence of brisk hemolysis, was found to have an unstable hemoglobin with a left-shifted oxygen dissociation curve. Two sisters of the patient had a history of hemolytic anemia. Both died of thromboembolic complications following splenectomy. Our patient was found to be heterozygous for a new β-chain mutation and β-thalassemia. All of the hemoglobin in his red cells was of the abnormal type, designated hemoglobin Duarte, and was shown to contain proline at the β62 (E6) position instead of alanine.

Publisher

American Society of Hematology

Subject

Cell Biology,Hematology,Immunology,Biochemistry

Link

http://ashpublications.org/blood/article-pdf/43/4/527/578225/527.pdf

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