J Hematol Mult Myeloma | Volume 2, Issue 1 | Research Article | Open Access
Janaina Santana Carneiro1, Marilda de Souza Gonçalves2*, Sérgio Roberto Lopes Albuquerque2, Nelson Abrahim Fraiji2 and José Pereira de Moura Neto1,3*
1Hematology and Haemotherapy Hospital Foundation of Amazonas, Manaus, Amazonas, Brazil
2Oswaldo Cruz Foundation - Gonçalo Moniz Research Center, Salvador, Bahia, Brazil
3Faculty of Pharmaceutical Sciences, Federal University of Amazonas, Manaus, Amazonas, Brazil
*Correspondance to: Marilda de Souza Gonçalves
Fulltext PDFAim: We describe βS and βC haplotypes and α-thalassemia 3.7kb genotypes from sickle cell disease patients Fundação 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 3.7kb 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 compared with 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. 13.7% and 2.8% of the HbSS patients were heterozygous and homozygous for the α-thalassemia 3.7kb deletion, respectively. No HbSC patients presented the deletion.
Conclusion: Here we present the distribution of haplotypes βS and βC and α-thalassemia deletion 3.7kb in a population sample with SCD from the Occidental Brazilian Amazon. Results have been analyzed in the context of hematological and biochemical profiles.
Sickle Cell Disease; α-thalassemia; Haplotypes; Amazon Patients
Carneiro JS, de Souza Gonçalves M, Albuquerque SRL, Fraiji NA, de Moura Neto JP. β-globin Haplotypes and α-thalassemia 3.7kb Deletion in Sickle Cell Disease Patients from the Occidental Brazilian Amazon. J Hematol Mult Myeloma. 2017;2(1):1009.