Abstract
Introduction: The Comoro archipelago is characterised by a high prevalence of red cell genetic disorders such as G6PD deficiency and haemoglobinopathies, being a region endemic for malaria. Over the last 15 years, the city of Marseilles in France has become the main destination for Comorian immigrants. This Comorian community includes patients with sickle cell disease, sickle cell/β-thalassaemia trait, thalassaemias and G6PD deficiency. Materials and methods: Allele frequencies for haemoglobin S, β-thalassaemia and G6PD deficiency were determined from neonatal and prenatal screenings of the Comorian community. Haemoglobin fractions were detected by isoelectrofocalisation, and the quantitation of HbS, HbA, HbA2 and HbF was performed by cation exchange high performance liquid chromatography. The molecular study involved 31 alleles carrying the βS mutation (Cd 6 [A→T]), six β-thalassaemic alleles and 17 G6PD-deficient alleles, selected from a group of carriers or affected subjects. Results: Allele frequencies were 3% for haemoglobin S, 1% for β-thalassaemia trait and 9.5% for G6PD deficiency. Molecular analysis had revealed that the African alleles are predominant, being present in almost all the subjects studied. Mediterranean alleles were found for all the β-thalassaemia mutations and for three G6PD chromosomes out of 17. Conclusion: These data are consistent with the mixed Arab and African origin of the population of the Comoro Islands, and are of clinical interest in prenatal and newborn screening plans.
| Original language | English |
|---|---|
| Pages (from-to) | 264-268 |
| Number of pages | 5 |
| Journal | Hematology Journal |
| Volume | 1 |
| Issue number | 4 |
| Publication status | Published - 2000 |
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Keywords
- Comoro Islands
- G6PD deficiency
- Sickle cell disease
- Thalassaemia
ASJC Scopus subject areas
- Hematology
Cite this
Molecular basis of haemoglobinopathies and G6PD deficiency in the Comorian population. / Badens, Catherine; Di Montemuros, Franco Martinez; Thuret, Isabelle; Michel, Gérard; Mattei, Jean François; Cappellini, Maria Domenica; Lena-Russo, Danielle.
In: Hematology Journal, Vol. 1, No. 4, 2000, p. 264-268.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Molecular basis of haemoglobinopathies and G6PD deficiency in the Comorian population
AU - Badens, Catherine
AU - Di Montemuros, Franco Martinez
AU - Thuret, Isabelle
AU - Michel, Gérard
AU - Mattei, Jean François
AU - Cappellini, Maria Domenica
AU - Lena-Russo, Danielle
PY - 2000
Y1 - 2000
N2 - Introduction: The Comoro archipelago is characterised by a high prevalence of red cell genetic disorders such as G6PD deficiency and haemoglobinopathies, being a region endemic for malaria. Over the last 15 years, the city of Marseilles in France has become the main destination for Comorian immigrants. This Comorian community includes patients with sickle cell disease, sickle cell/β-thalassaemia trait, thalassaemias and G6PD deficiency. Materials and methods: Allele frequencies for haemoglobin S, β-thalassaemia and G6PD deficiency were determined from neonatal and prenatal screenings of the Comorian community. Haemoglobin fractions were detected by isoelectrofocalisation, and the quantitation of HbS, HbA, HbA2 and HbF was performed by cation exchange high performance liquid chromatography. The molecular study involved 31 alleles carrying the βS mutation (Cd 6 [A→T]), six β-thalassaemic alleles and 17 G6PD-deficient alleles, selected from a group of carriers or affected subjects. Results: Allele frequencies were 3% for haemoglobin S, 1% for β-thalassaemia trait and 9.5% for G6PD deficiency. Molecular analysis had revealed that the African alleles are predominant, being present in almost all the subjects studied. Mediterranean alleles were found for all the β-thalassaemia mutations and for three G6PD chromosomes out of 17. Conclusion: These data are consistent with the mixed Arab and African origin of the population of the Comoro Islands, and are of clinical interest in prenatal and newborn screening plans.
AB - Introduction: The Comoro archipelago is characterised by a high prevalence of red cell genetic disorders such as G6PD deficiency and haemoglobinopathies, being a region endemic for malaria. Over the last 15 years, the city of Marseilles in France has become the main destination for Comorian immigrants. This Comorian community includes patients with sickle cell disease, sickle cell/β-thalassaemia trait, thalassaemias and G6PD deficiency. Materials and methods: Allele frequencies for haemoglobin S, β-thalassaemia and G6PD deficiency were determined from neonatal and prenatal screenings of the Comorian community. Haemoglobin fractions were detected by isoelectrofocalisation, and the quantitation of HbS, HbA, HbA2 and HbF was performed by cation exchange high performance liquid chromatography. The molecular study involved 31 alleles carrying the βS mutation (Cd 6 [A→T]), six β-thalassaemic alleles and 17 G6PD-deficient alleles, selected from a group of carriers or affected subjects. Results: Allele frequencies were 3% for haemoglobin S, 1% for β-thalassaemia trait and 9.5% for G6PD deficiency. Molecular analysis had revealed that the African alleles are predominant, being present in almost all the subjects studied. Mediterranean alleles were found for all the β-thalassaemia mutations and for three G6PD chromosomes out of 17. Conclusion: These data are consistent with the mixed Arab and African origin of the population of the Comoro Islands, and are of clinical interest in prenatal and newborn screening plans.
KW - Comoro Islands
KW - G6PD deficiency
KW - Sickle cell disease
KW - Thalassaemia
UR - http://www.scopus.com/inward/record.url?scp=0034584618&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=0034584618&partnerID=8YFLogxK
M3 - Article
VL - 1
SP - 264
EP - 268
JO - Hematology Journal
JF - Hematology Journal
SN - 1466-4860
IS - 4
ER -