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 -α(3.7) 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 α(0)-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.