Prevalence of common hemoglobin variants in an afro-descendent Ecuadorian population

BMC Research Notes

Marcelo Mora¹  Jacqueline Villacís¹  Diego Calvopiña¹  Camilo Zurita¹  Yamila Domínguez² 

[1]Centro Internacional de Investigaciones en la Salud-Ecuador, Av. Prensa N49-221 y Manuel Valdivieso, Quito, Ecuador

[2]Escuela Politécnica de Ejército, Av. Gral. Rumiñahui s/n, Sangolquí, Ecuador

关键词: Sickle cell;    Genetic disorders;    Afro-descendants;    Ecuador;    Capillary electrophoresis;    Hemoglobinopathies;    Hemoglobin;   

Others  :  1143022
DOI  :  10.1186/1756-0500-6-132

 received in 2012-11-19, accepted in 2013-03-20,  发布年份 2013

【 摘 要 】

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.

Findings

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%).

Conclusion

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.

【 授权许可】

   
2013 Domínguez et al.; licensee BioMed Central Ltd.

【 图 表 】

Figure 1.

Figure 2.

【 参考文献 】

• [1]Williams TN, Weatherall DJ: World distribution, population genetics, and health burden of the hemoglobinopathies. Cold Spring Harbor perspectives in medicine 2012, 2:a011692.
• [2]Malcorra JJ: Hemoglobinopatías Y Talasemias. BSCP Canarias Pediátrica 2001, 25:265-277.
• [3]Arends A, Chacín M, Bravo-Urquiola M, Montilla S, Guevara JM, Velásquez D, García G, Álvarez M: Hemoglobinopatías en Venezuela. Interciencia 2007, 32:516-521.
• [4]Abarca G, Navarrete M, Trejos R, Céspedes CD, Saborío M, Rica C: Hemoglobinas anormales en la población neonatal de Costa Rica. Rev Biol Trop 2008, 56:995-1001.
• [5]Muncie H, Campbell J: Alpha and beta thalassemia. Am Fam Physician 2009, 80:339-344.
• [6]Luz JD, Sans M, Kimura EM, Albuquerque DM, Sonati MDF, Costa FF: alpha-thalassemia, HbS, and beta-globin gene cluster haplotypes in two Afro-Uruguayan sub-populations from northern and southern Uruguay. Genet Mol Biol 2006, 29:595-600.
• [7]Instituto Nacional de Estadísticas y Censos: Población por área, según provincia, cantón y parroquia de empadronamiento y grupos étnicos. http://www.inec.gob.ec/cpv/index.php?option=com_content&view=article&id=232&Itemid=128&lang=es webcite
• [8]Martínez-Labarga C: Origen y evolución de las comunidades afroamericanas de Esmeraldas ( Ecuador ): datos históricos y genéticos. Anales del Museo de America 1997, 5:129-138.
• [9]Guevara A, Chico M, Calvopiña M, Guderian RH: Hemoglobinopatías en comunidades de raza negra de los ríos Cayapas y Onzoles, cantón Eloy Alfaro, provincia de Esmeraldas, Ecuador. Biomedica 1998, 18:122-128.
• [10]Jara NO, Guevara Espinoza A, Guderian RH: [Abnormal hemoglobins in Negroid Ecuadorian populations]. Sangre 1989, 34:10-13.
• [11]Lorey FW, Arnopp J, Cunningham GC: Distribution of hemoglobinopathy variants by ethnicity in a multiethnic state. Genet Epidemiol 1996, 13:501-512.
• [12]Instituto Nacional de Estadísticas y Censos: Población por grupos de edad, según provincia, cantón, parroquia y área de empadronamiento. http://www.inec.gob.ec/cpv/index.php?option=com_content&view=article&id=232&Itemid=128&lang=es webcite
• [13]Ruiz Franco O, Villacorta Wettstein ME, Zaga Catacora RE, Márquez Torres MC: [Abnormal hemoglobins in a Negroid population in Peru]. Sangre 1990, 35:263-265.
• [14]Rosero MJ, Bermudez AJ: Análisis de hemoglobinopatías en regiones afrocolombianas usando muestras de sangre seca de cordón umbilical Analysis of hemoglobinopathies in afro-colombian regions using dried blood samples of umbilical cord. Acta Medica Colombiana 2012, 37:118-124.
• [15]Saenz G, Gutiérrez A, Brilla E, Arroyo G, Barrenechea M, Valenciano E, Jiménez J: Investigación de hemoglobinas anormales en población de raza negra costarricense. Rev Biol Trop 1971, 19:251-256.
• [16]Cevallos RR: Prevalencia de hemoglobinas S y C en población afroecuatoriana de Santo Domingo de los Colorados. Revista de la Facultad de Ciencias Médicas (Quito) 2007, 32:81-85.
• [17]Peñaloza-Espinosa RI, Buentello-Malo L, Hernández-Maya A, Nieva-García B, Lisker-Yurkowitzki R, Salamanca-Gómez F: Frecuencia de la hemoglobina S en cinco poblaciones mexicanas y su importancia en la salud pública. Salud Publica Mex 2008, 50:325-329.
• [18]Saenz G, Rodriguez W, Chavez M: Variantes estructurales de la hemoglobina en Iberoamérica. Revisiones de Biologia Tropical 1993, 3:393-403.
• [19]Adorno EV, Couto FD, De Moura Neto JP, Menezes J, Rego M, Galvao dos Reis M, Goncalves M: Hemoglobinopathies in newborns from Salvador, Bahia, Northeast Brazil. Cad Saude Publica 2005, 21:292-298.
• [20]Oliveira SF, Pedrosa MAF, Sousa SMB, Mingroni-Netto R, Abe-Sandes K, Ferrari Í, Barbosa A, Auricchio MT, Klautau-Guimaraes MdN: Heterogeneous distribution of HbS and HbC alleles in afro-derived brazilian populations. Int J Hum Genet 2002, 2:153-159.
• [21]Rickards O: Analysis of the region V mitochondrial marker in two Black communities of Ecuador, and in their parental populations. Hum Evol 1995, 10:5-16.
• [22]Rickards O, Martínez-Labarga C, Lum JK, De Stefano GF, Cann RL: mtDNA history of the Cayapa Amerinds of Ecuador: detection of additional founding lineages for the Native American populations. Am J Hum Genet 1999, 65:519-530.
• [23]Chui D, Hardison R, Riemer C, Miller W, Carver MFH, Molchanova TP, Efremov GD, Huisman THJ: An electronic database of human hemoglobin variants on the world wide Web. Blood 1998, 91:2643-2644.