Molecular basis of haemoglobinopathies and G6PD deficiency in the Comorian population

Catherine Badens, Franco Martinez Di Montemuros, Isabelle Thuret, Gérard Michel, Jean François Mattei, Maria Domenica Cappellini, Danielle Lena-Russo

Research output: Contribution to journalArticle

16 Citations (Scopus)

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 languageEnglish
Pages (from-to)264-268
Number of pages5
JournalHematology Journal
Volume1
Issue number4
Publication statusPublished - 2000

Fingerprint

Glucosephosphate Dehydrogenase Deficiency
Hemoglobinopathies
Thalassemia
Alleles
Sickle Hemoglobin
Population
Prenatal Diagnosis
Gene Frequency
Comoros
Sickle Cell Trait
Neonatal Screening
Chromosomes, Human, Pair 17
Mutation
Inborn Genetic Diseases
Sickle Cell Anemia
Malaria
France
Cations
Hemoglobins
High Pressure Liquid Chromatography

Keywords

  • Comoro Islands
  • G6PD deficiency
  • Sickle cell disease
  • Thalassaemia

ASJC Scopus subject areas

  • Hematology

Cite this

Badens, C., Di Montemuros, F. M., Thuret, I., Michel, G., Mattei, J. F., Cappellini, M. D., & Lena-Russo, D. (2000). Molecular basis of haemoglobinopathies and G6PD deficiency in the Comorian population. Hematology Journal, 1(4), 264-268.

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 journalArticle

Badens, C, Di Montemuros, FM, Thuret, I, Michel, G, Mattei, JF, Cappellini, MD & Lena-Russo, D 2000, 'Molecular basis of haemoglobinopathies and G6PD deficiency in the Comorian population', Hematology Journal, vol. 1, no. 4, pp. 264-268.
Badens C, Di Montemuros FM, Thuret I, Michel G, Mattei JF, Cappellini MD et al. Molecular basis of haemoglobinopathies and G6PD deficiency in the Comorian population. Hematology Journal. 2000;1(4):264-268.
Badens, Catherine ; Di Montemuros, Franco Martinez ; Thuret, Isabelle ; Michel, Gérard ; Mattei, Jean François ; Cappellini, Maria Domenica ; Lena-Russo, Danielle. / Molecular basis of haemoglobinopathies and G6PD deficiency in the Comorian population. In: Hematology Journal. 2000 ; Vol. 1, No. 4. pp. 264-268.
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