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β-globin gene cluster haplotypes in sickle cell patients from Panamá

Iryna Rusanova1, Gladys Cossio, Bélgica Moreno

  • 1Departamento de Biomédica, Universidad Especializada de las Américas, Panamá, República de Panamá.

American Journal of Human Biology : the Official Journal of the Human Biology Council
|March 10, 2011
PubMed

Insights

The Bantu haplotype is most common in Panamanian sickle cell disease (SCD) patients. Haplotype distribution in Panama aligns with Colombian findings, indicating African origins for SCD in the region.

Area of Science:

  • Genetics
  • Hematology
  • Molecular Biology

Background:

  • Sickle cell disease (SCD) is a genetic blood disorder.
  • Understanding β-globin gene cluster haplotypes is crucial for SCD research.
  • Haplotype analysis provides insights into disease origins and population genetics.

Purpose of the Study:

  • To determine the frequency of β-globin gene cluster haplotypes in Panamanian SCD patients.
  • To investigate the genetic origins of SCD in Panama.
  • To compare haplotype distribution with other regions.

Main Methods:

  • Polymerase chain reaction (PCR) and restriction digestion were used.
  • Five polymorphic sites in the β-globin gene cluster were analyzed.
  • 100 SCD patients (95 HbS homozygotes, 5 HbSC disease) were studied.

Main Results:

  • The Bantu haplotype was predominant (51%), followed by Benin (30%), Senegal (8.5%), and Cameroon (4%).
  • SEN/SEN patients showed significantly higher HbF levels than BEN/BEN patients.
  • High reticulocyte counts in BEN/BEN and CAR/CAR genotypes correlated with a poorer prognosis.

Conclusions:

  • Common β(S) haplotypes of African origin are present in Panama.
  • The haplotype distribution in Panama is similar to that found in Colombia.
  • This study contributes to understanding SCD's genetic landscape in Latin America.
Abstract

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