title: Prevalence of common hemoglobin variants in an afro-descendent Ecuadorian population.
abstract: BACKGROUND
  Hemoglobinopathies are among the most studied and frequent pathologies. These genetic disorders are considered a very important health care threat in many tropical countries. Ecuador is a tropical Latin-American country with an important presence of afro-descendants (7.2%). Afro-descendants are among the ethnic groups with higher frequency of hemoglobinopathies reported. Ambuqui is a region within the Imbabura province with an important presence of afro-descendants (>50%). The present study analyzed the frequency of the most common hemoglobin variants in an asymptomatic afro-descendent population using capillary electrophoresis.
  
  
  RESULTS
  From 114 individuals, 25 (22%) reported a hemoglobin variant. All individuals that presented hemoglobin variants were heterozygotes (asymptomatic). Hemoglobin S (sickle cell trait) was the most frequent variant found (14%), followed by hemoglobin E (4.4%), Fetal (2.6%) and C (1%).
  
  
  CONCLUSIONS
  Prevalence of hemoglobin S was consistent with populations from other countries, but it was lower than other Ecuadorian afro-descendent populations. Frequency of hemoglobin C was lower than other afro-descendent populations. This data suggests the possibility of gene flow from Native American individuals to the Ambuqui population there by lowering the frequency of their hemoglobin variants compared with other afro-descendant populations. Evaluating the frequency of hemoglobinopathies in Ecuadorian populations is essential. Despite the high frequency of these disorders, very few health care facilities implement hemoglobinopathies tests as a routine practice.
authors.affiliation: Escuela Politécnica de Ejército, Av. Gral. Rumiñahui s/n, Sangolquí, Ecuador.
authors.forename: Yamila
authors.initials: Y
authors.lastname: Domínguez
authors.forename: Camilo
authors.initials: C
authors.lastname: Zurita
authors.forename: Diego
authors.initials: D
authors.lastname: Calvopiña
authors.forename: Jacqueline
authors.initials: J
authors.lastname: Villacís
authors.forename: Marcelo
authors.initials: M
authors.lastname: Mora
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D044383:Black People / Q000235:genetics*; D004484:Ecuador; D019075:Electrophoresis, Capillary; D005260:Female; D005319:Fetal Hemoglobin / Q000235:genetics; D020022:Genetic Predisposition to Disease; D005828:Genetics, Population; D006444:Hemoglobin C / Q000235:genetics; D006446:Hemoglobin E / Q000235:genetics; D006451:Hemoglobin, Sickle / Q000235:genetics; D006453:Hemoglobinopathies / Q000208:ethnology* / Q000235:genetics*; D006454:Hemoglobins / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D008297:Male; D008875:Middle Aged; D012805:Sickle Cell Trait / Q000235:genetics; D055815:Young Adult
chemical_list: D006451:Hemoglobin, Sickle; D006454:Hemoglobins; D006444:Hemoglobin C; D006446:Hemoglobin E; D005319:Fetal Hemoglobin
references.citation: Rev Biol Trop. 1993 Dec;41(3A):393-403
references.pmid: 7701080
references.citation: Genet Epidemiol. 1996;13(5):501-12
references.pmid: 8905396
references.citation: Rev Biol Trop. 2008 Sep;56(3):995-1001
references.pmid: 19419022
references.citation: Cad Saude Publica. 2005 Jan-Feb;21(1):292-8
references.pmid: 15692663
references.citation: Am Fam Physician. 2009 Aug 15;80(4):339-44
references.pmid: 19678601
references.citation: Blood. 1998 Apr 15;91(8):2643-4
references.pmid: 9531571
references.citation: Am J Hum Genet. 1999 Aug;65(2):519-30
references.pmid: 10417294
references.citation: Cold Spring Harb Perspect Med. 2012 Sep 01;2(9):a011692
references.pmid: 22951448
references.citation: Salud Publica Mex. 2008 Jul-Aug;50(4):325-9
references.pmid: 18670724
references.citation: Sangre (Barc). 1989 Feb;34(1):10-3
references.pmid: 2711279
references.citation: Sangre (Barc). 1990 Aug;35(4):263-5
references.pmid: 2274837
references.citation: Rev Biol Trop. 1971 Jul-Dec;19(1):251-6
references.pmid: 5161285