Beta-Globin Haplotypes and Alpha-Thalassemia 3.7 kb Deletion in Sickle Cell Disease Patients From the Occidental Brazilian Amazon

Janaina Santana Carneiro, Marilda de Souza Goncalves, Sergio Roberto Lopes Albuquerque, Nelson Abrahim Fraiji, Jose Pereira de Moura Neto

Abstract


Background: Sickle cell disease (SCD) includes a group of inherited red blood cell disorders. SCD patients vary widely from person to person. We describe βS and βC haplotypes and α-thalassemia 3.7 kb genotypes from SCD patients Fundacao Hospitalar de Hematologia e Hemoterapia do Amazonas, Manaus, AM.

Methods: Our survey included 139 HbSS and 11 HbSC patients. Molecular genotypes have been identified by PCR-RFLP and α-thalassemia 3.7 kb deletion by ASO-PCR. Male/female distribution was 42.3%/57.7%.

Results: The average age at enrolment was 19.1 years for HbSS and 25.85 years for HbSC. Average fetal hemoglobin was 11.27% for HbSS and 7.86% for HbSC. Anemia in HbSS patients was more severe and hemolysis twice as stronger as HbSC individuals. The frequency distribution of the most common β-globin haplotypes among HbSS patients was 52.5% CAR/CAR, 23.7% CAR/Ben and 18% Ben/Ben. For the HbSC group, the haplotype distribution was 36.3% CAR/CI, 27.3% Benin/CI, 18.2% CAR/CII, 9.1% CAR/CIII and 9.1% Benin/CII. Of the HbSS patients, 13.7% and 2.8% were heterozygous and homozygous for the α-thalassemia 3.7 kb deletion, respectively. No HbSC patients presented the deletion.

Conclusions: Here we present the distribution of haplotypes βS and βC and α-thalassemia deletion 3.7 kb in a population sample with SCD from the Occidental Brazilian Amazon. Results have been analyzed in the context of hematological and biochemical profiles.




J Hematol. 2016;5(4):123-128
doi: https://doi.org/10.14740/jh310w


Keywords


Sickle cell disease; α-thalassemia; Haplotypes; Amazon patients

Full Text: HTML PDF
 
Home     |     Log In     |      About     |      Search     |      Current     |      Archives     |      Submit      |     Subscribe


 

     

Aims and Scope

Current Issues

Conflict of Interest

About Publisher

Editorial Board

Archives

Copyright

Company Profile

Editorial Office

Misconduct and Retraction

Permissions

Company Registration

Contact Us

Abstracting and Indexing

ICMJE

Ownership

Instructions to Authors

Access

Declaration of Helsinki

Contact Publisher

Submission Checklist

Reprints

Terms of Use

Company Address

Submit a Manuscript

Open Access Policy

Privacy Policy

Browse Journals

Publishing Fee

Publishing Policy

Disclaimer

Recent Highlights

Peer-Review Process

Publishing Quality

Code of Ethics

Advertising Policy

Manuscript Tracking

Advanced Search

For Librarians

Careers

Publishing Process

Publication Frequency

For Reviewers

Propose a New Journal

       
       

Journal of Hematology, quarterly, ISSN 1927-1212 (print), 1927-1220 (online), published by Elmer Press Inc.            
The content of this site is intended for health care professionals.
This is an open-access journal distributed under the terms of the Creative Commons Attribution-NonCommercial 4.0 International License, which permits unrestricted
non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.
Creative Commons Attribution license (Attribution-NonCommercial 4.0 International CC BY-NC 4.0)



This journal follows the International Committee of Medical Journal Editors (ICMJE) recommendations for manuscripts submitted to biomedical journals,
the Committee on Publication Ethics (COPE) guidelines, and the Principles of Transparency and Best Practice in Scholarly Publishing.

website: www.thejh.org    editorial contact: editor@thejh.org
Address: 9225 Leslie Street, Suite 201, Richmond Hill, Ontario, L4B 3H6, Canada
 

© Elmer Press Inc. All Rights Reserved.

IMPORTANT: THIS JOURNAL SITE OUTLOOK IS DESIGNED BY THE PUBLISHER AND COPYRIGHT PROTECTED. DO NOT COPY!