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(Reference retrieved automatically from Web of Science through information on FAPESP grant and its corresponding number as mentioned in the publication by the authors.)

Haptoglobin Genotypes in Sickle-Cell Disease

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Nunes Santos, Magnun Nueldo [1, 2] ; Cavalcanti Bezerra, Marcos Andre [3] ; Tavares Borges Domingues, Betania Lucena [2] ; Zaccariotto, Tania Regina [1] ; Oliveira, Denise Madureira [1] ; Costa, Fernando Ferreira [4] ; Araujo, Aderson da Silva [2] ; Sonati, Maria de Fatima [1]
Total Authors: 8
[1] State Univ Campinas UNICAMP, Dept Clin Pathol, Sch Med Sci, BR-13083887 Sao Paulo - Brazil
[2] HEMOPE Fdn, Hematol & Hemotherapy Center, Recife, PE - Brazil
[3] Fed Univ Pernambuco UFPE, Dept Biophys & Radiobiol, Recife, PE - Brazil
[4] State Univ Campinas UNICAMP, Hematol & Hemotherapy Ctr, BR-13083887 Sao Paulo - Brazil
Total Affiliations: 4
Document type: Journal article
Source: GENETIC TESTING AND MOLECULAR BIOMARKERS; v. 15, n. 10, p. 709-713, OCT 2011.
Web of Science Citations: 1

We compared the frequencies of the haptoglobin (Hp) genotypes of 775 Brazilian patients with sickle-cell disease divided into the following age groups: 3 months-5 years, 6-10 years, 11-15 years, 16-20 years, and over 20 years. The last group (>20 years) was also compared with a healthy control group and was further divided into subgroups including only subjects aged 21-30 years (V.a and Control.a) and over 30 years (V.b and Control.b). There was no significant difference in the frequencies of the Hp genotypes between the different patient groups or between the patients and controls. However, the Hp2-2 genotype was always less frequent than the Hp1-1 genotype in the patient groups, whereas the opposite was observed in healthy controls. The frequency of Hp2-2 was 25.0% in patients in the 21-30 years age group and fell to 19.5% in those over 30 years. In the controls, the corresponding frequency was around 28%. Although our results do not allow us to conclude that Hp genotypes on their own confer greater or lesser selective advantage on sickle-cell disease patients in the population studied, this polymorphism may, when combined with other genetic and environmental factors, contribute to the clinical diversity observed in this disease. (AU)

FAPESP's process: 08/57441-0 - Clinical, cellular and molecular alterations in hemoglobinopathies and other hereditary hemolytic anemias
Grantee:Fernando Ferreira Costa
Support type: Research Projects - Thematic Grants
FAPESP's process: 08/01690-2 - Haptoglobin Genotypes in Sickle Cell Diseases
Grantee:Maria de Fatima Sonati
Support type: Regular Research Grants