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 betaS and betaC haplotypes and alpha-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 alpha-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 beta-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 betaS and betaC and alpha-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

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