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Hemoglobin SC disease in a brazilian population

Raquel Ribeiro Gomes; Antonio Sérgio Ramalho

Departamento de Genética Médica, Faculdade de Ciências Médicas, Universidade Estadual de Campinas, Caixa Postal 6.111, 13.083 Campinas, SP, Brasil

ABSTRACT

Although hemoglobin SC disease is the second sickle-cell syndrome most frequent in Brazilian populations, the condition has been little studied from a medical point of view in this country. In the present study the SC genotype was investigated among 1,000 Southeastern-Brazilian Blacks who were under treatment in a school-hospital. Clinical and hematological studies were also carried out on 35 patients with symptomatic sickle-cell hemoglobin C disease.
The frequency of SC heterozygotes in the hospital sample (0.6%) was significantly higher than expected for Southeastern-Brazilian Blacks (0.03%). The frequency of SC individuals was especially higher among patients with bone and joint pain (3.2%). The overall results indicate a significant clinical severity for hemoglobin SC disease in Brazilian populations, in spite of its unusual diagnosis in this country. However, the SC disease is less severe than sickle-cell anemia and S/ß° talassemia.

Keywords: hemoglobin; disease; brazilian; population.

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