Molecular Variations Linked to the Grouping of β- and α-Globin Genes in Neonatal Patients with Sickle Cell Disease in the State of Pernambuco, Brazil

Various factors have been described as phenotypic modulators of sickle cell disease, such as levels of fetal hemoglobin (Hb F), presence of α-thalassemia (thal), and haplotypes of the β-globin genes. In order to characterize and determine the frequency of the βS and βC mutations and the prevalence o...

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Veröffentlicht in:Hemoglobin Jg. 31; H. 1; S. 83 - 88
Hauptverfasser: Bezerra, Marcos André C., Santos, Magnun N.N., Araújo, Aderson S., Gomes, Yara M., Abath, Frederico G.C., Bandeira, Flavia M.G.C.
Format: Journal Article
Sprache:Englisch
Veröffentlicht: England Informa UK Ltd 2007
Taylor & Francis
Schlagworte:
African Continental Ancestry Group - ethnology
African Continental Ancestry Group - genetics
alpha-Thalassemia - ethnology
alpha-Thalassemia - genetics
Anemia, Sickle Cell - blood
Anemia, Sickle Cell - ethnology
Anemia, Sickle Cell - genetics
beta-Thalassemia - ethnology
beta-Thalassemia - genetics
Brazil - ethnology
Child, Preschool
Female
Globin
Globins - genetics
Haplotypes
Haplotypes - genetics
Hemoglobin, Sickle - genetics
Humans
Infant
Male
Sickle cell disease
α-Globin
Brazil
ISSN:0363-0269, 1532-432X
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Zusammenfassung:Various factors have been described as phenotypic modulators of sickle cell disease, such as levels of fetal hemoglobin (Hb F), presence of α-thalassemia (thal), and haplotypes of the β-globin genes. In order to characterize and determine the frequency of the βS and βC mutations and the prevalence of −α3.7-thal, 74 patients with sickle cell disease detected during neonatal screening in the State of Pernambuco, Brazil, were studied. The haplotypes of the β gene and −α3.7-thal were determined using polymerase chain reaction (PCR), and specific restriction endonucleases were used to establish the polymorphic sites of the haplotypes. The results showed the high frequency of the Central African Republic (CAR) or Bantu haplotype in the State of Pernambuco, Brazil. The low frequency of the Benin haplotype recorded in this study, in comparison with other states in northeast Brazil, suggests the diversity of origins of Afro-Brazilians in this region.
Bibliographie:ObjectType-Article-1
SourceType-Scholarly Journals-1
ObjectType-Feature-2
content type line 23
ISSN:0363-0269
1532-432X
DOI:10.1080/03630260601057153