Functional characterization of compound heterozygosity Hb S/Hb Deer Lodge in Brazil

被引：0

作者：

Sobreira, Marcondes J. ^{[1
]}

Batista, Thais H. ^{[1
]}

Santana, Rodrigo M. ^{[1
]}

Arcanjo, Gabriela S. ^{[1
]}

Jorge, Susan E. ^{[2
]}

Santos, Magnun N. ^{[2
]}

Albuquerque, Dulcineia M. ^{[3
]}

Hatzlhofer, Betaniad L. ^{[1
,4
]}

dos Anjos, Ana C. ^{[5
]}

Costa, Fernando F. ^{[3
]}

Araujo, Aderson S. ^{[5
]}

Sonati, Maria F. ^{[2
]}

Lucena-Araujo, Antonio R. ^{[1
]}

Bezerra, Marcos A. ^{[1
]}

机构：

[1] Univ Fed Pernambuco, Programa Posgrad Genet, Recife, PE, Brazil

[2] Univ Estadual Campinas, Fac Ciencias Med, Dept Patol Clin, Campinas, SP, Brazil

[3] Univ Estadual Campinas, Ctr Hematol & Hemoterapia, Campinas, SP, Brazil

[4] Univ Fed Pernambuco, Ctr Ciencias Saude, Dept Ciencias Farmaceut, Recife, PE, Brazil

[5] Fundacao Hematol & Hemoterapia Pernambuco, Dept Med Interna, Recife, PE, Brazil

来源：

HEMATOLOGY TRANSFUSION AND CELL THERAPY | 2024年 / 46卷

关键词：

Sickle cell disease; Hemoglobin variant; Hemoglobin Deer Lodge; HEMOGLOBIN; OXYGEN; 2,3-DIPHOSPHOGLYCERATE;

D O I：

10.1016/j.htct.2023.09.2370

中图分类号：

R73 [肿瘤学];

学科分类号：

100214 ;

摘要：

Introduction: The Hb Deer Lodge (beta 2 His>Arg; HBB:c.8A>G) is a structural hemoglobin variant described in some populations around the world, characterized by increased oxygen affinity, but does not confer clinical symptoms to its carriers. The coinheritance of the Hb Deer Lodge with the most common hemoglobin variant, Hb S, has been reported only once; however, functional data were not described. Here we show a case of the Hb S and Hb Deer Lodge carrier in heterozygosity. Methods: The Hb S and Hb Deer Lodge association was identified by High-Performance Liquid Chromatography (HPLC), reverse phase HPLC and the beta globin gene sequencing. The functional characterization of this interaction was obtained using the O-2 dissociation curve, determination of the cooperativity between the globin chains and the Bohr effect in the presence and absence of organic phosphates. Results: When the Hb S and Hb Deer Lodge were associated, there was a decrease in cooperativity, no significant changes in oxygen affinity and no significant Bohr effect changes. Conclusion: Despite these genetic variations, the carrier showed no hematological alterations and no clinical symptoms, possibly due to the high oxygen affinity of the Hb Deer Lodge, which interferes with the Hb S polymerization. (c) 2023 Associa & ccedil;& atilde;o Brasileira de Hematologia, Hemoterapia e Terapia Celular. Published by Elsevier Espa & ntilde;a, S.L.U. This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/).

引用

页码：S158 / S162

页数：5