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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
biochemistry, genetics and molecular biology
High prevalence of hemoglobin disorders and glucose-6-phosphate dehydrogenase (G6PD) deficiency in the Republic of Guinea (West Africa)
Hemoglobin, Volume 36, No. 1, Year 2012
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Description
Reliable and accurate epidemiological data is a prerequisite for a cost effective screening program for inherited disorders, which however, is lacking in a number of developing countries. Here we report the first detailed population study in the Republic of Guinea, a sub-Saharan West African country, designed to assess the frequency of glucose-6-phosphate dehydrogenase (G6PD) deficiency and hemoglobinopathies, including screening for thalassemia. Peripheral blood samples from 187 Guinean adults were screened for hemoglobin (Hb) variants by standard hematological methods. One hundred and ten samples from males were screened for G6PD deficiency by the fluorescent spot test. Molecular analysis was performed for the most common α-thalassemia (α-thal) deletions, β-globin gene mutations, G6PD variants B (376A), A (376G), A (376G/202A) and Betica (376G/968C), using polymerase chain reaction (PCR), restriction fragment length polymorphism (RFLP) or sequencing. Of the 187 subjects screened, 36 were heterozygous for Hb S [β6(A3)Glu→Val, GAG>GTG] (allele frequency 9.62%). Sixty-four subjects were heterozygous and seven were homozygous for the -α3.7 kb deletion (allele frequency 20.85%). β-Thalassemia alleles were detected in five subjects, four with the -29 (A>G) mutation (allele frequency 1.07%) and one with codon 15 (TGG>TAG) (allele frequency 0.96%). The G6PD A and G6PD Betica deficient variants were highly prevalent with a frequency of 5.7 and 3.3%, respectively. While we did not test for ferritin levels or α0-thal, four females (5.2%) had red cell indices strongly suggestive of iron deficient anemia: Hb <9.7 g/dL; MCH <19.3 pg; MCV <68.2; MCHC <31.6 g/dl; RDW >19.8%. Our results are consistent with high frequency of alleles such as Hb S, α-thal and G6PD deficient alleles associated with malaria resistance. Finding a 9.6% Hb S allele frequency supports the notion for a proficient neonatal screening to identify the sickle cell patients, who might benefit from early prophylactic treatment for infections. The incidence of significant iron deficient anemia in women is lower than expected in an under developed country. © 2012 Informa Healthcare USA, Inc.
Authors & Co-Authors
Millimono, Tamba S.
Guinea
Donka Hospital
Loua, Kovana Marcel
Guinea
Institut National de Santé Publique
Rath, Silvia L.
Guinea
Institut National de Santé Publique
Relvas, Luís
Portugal, Coimbra
Centro Hospitalar e Universitário de Coimbra
Bento, Celeste
Portugal, Coimbra
Centro Hospitalar e Universitário de Coimbra
Diakité, Mandiou
Guinea
Donka Hospital
Jarvis, Martin
United Kingdom, London
North Middlesex University Hospital
Daries, Nathalie
Unknown Affiliation
Ribeiro, Letícia
Portugal, Coimbra
Centro Hospitalar e Universitário de Coimbra
Manco, Licínio
Portugal, Coimbra
Centro Hospitalar e Universitário de Coimbra
Portugal, Coimbra
Universidade de Coimbra, Centro de Investigação em Antropologia e Saúde
Kaeda, Jaspal Singh
Germany, Berlin
Charité – Universitätsmedizin Berlin
Statistics
Citations: 17
Authors: 11
Affiliations: 6
Identifiers
Doi:
10.3109/03630269.2011.600491
ISSN:
03630269
e-ISSN:
1532432X
Research Areas
Cancer
Genetics And Genomics
Health System And Policy
Infectious Diseases
Maternal And Child Health
Study Design
Cross Sectional Study
Cohort Study
Study Locations
Multi-countries
Guinea
Participants Gender
Female