Publications by authors named "Silvia L Rath"
Reliable and accurate epidemiological data is a prerequisite for a cost effective screening program for inherited disorders, which however, is lacking in a number of developing countries. Here we report the first detailed population study in the Republic of Guinea, a sub-Saharan West African country, designed to assess the frequency of glucose-6-phosphate dehydrogenase (G6PD) deficiency and hemoglobinopathies, including screening for thalassemia. Peripheral blood samples from 187 Guinean adults were screened for hemoglobin (Hb) variants by standard hematological methods.
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- Ferroportin is crucial for iron export and the Q248H mutation, common in people of African descent, was analyzed in three West African populations to better understand its frequency.
- The study examined samples from S. Tomé e Príncipe, Angola, and Republic of Guinea, discovering Q248H frequencies of 2.2%, 3.5%, and 4.1%, respectively.
- Results indicate a strong association between the Q248H mutation and specific genetic markers, suggesting a common origin of the mutation in these sub-Saharan populations.