A study on incidence of thalassemia in Port Said - Egypt using complete blood counts (CBC), a modified osmotic fragility test (OF-test) and a direct PCR on whole blood cell lysates

Document Type : Research and Reference

Authors

1 Zoology Department, Faculty of Science, Suez Canal University, Ismailia, Egypt.

2 Medical Lab El-Lwah, Saad Zaghloul St, Port Said, Egypt

3 Department of Clinical Pathology, Faculty of Medicine, Al-Azhar University, Cairo, Egypt

4 Zoology Department, Faculty of Science, Suez Canal University, Ismailia, Egypt

Abstract

In order to study the incidence of thalassemia in Port Said - Egypt, we have used complete blood
counts (CBC) and a combination of a modified onetube osmotic fragility test (OF-test) followed
by a direct PCR analysis on whole blood cell lysates. One hundred and eighty adult Port Said
subjects from different regions were screened. Fifty nine of the 180 subjects (32.8%) were
positive for a modified OF-test. They all had significant CBC analysis as compared to the OFtest
negative group. A successful identification of thalassemia using a 0.34% buffered saline
OF-test prior to PCR-based genotyping on cell lysates was demonstrated. Among the 59 OF-test
positive subjects, 8 resided unrelated cases were successfully observed to be thalassemic
subjects. Our prospective study in 180 adult subjects confirms the expected incidence of α-
thalassemia and β-thalassemia types in Port Said limited population which has not been reported
before. The purpose to study the incidence of thalassemia in Port Said is making it applicable to
a large-scale screening program in Egypt population, to give more insight into the origin and
thalassemia mutations underlying these incidences, and to meet the short and long term goals of
thalassemia prevention and management.

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