Prevalence and genotypes of alpha- and beta-thalassemia carriers in Hong Kong - implications for population screening

Article Abstract:

Many Hong Kong women at risk of bearing a child with alpha- or beta-thalassemia are not receiving prenatal testing. Thalassemia is a genetic disorder that affects the synthesis of hemoglobin. Researchers in Hong Kong tested 1,812 high school students for alpha- or beta-thalassemia. Ninety students tested positive for alpha-thalassemia, 61 tested positive for beta-thalassemia and six tested positive for both. Generalizing these results to the remaining population shows that many pregnant women carrying these mutations are not being tested.

Health aspects, Diagnosis, Hong Kong, Thalassemia

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Limited family structure and BRCA gene mutation status in single cases of breast cancer

Article Abstract:

Studies are conducted to determine if BRCA gene mutations are more prevalent among single cases of early onset breast cancer in families with limited or adequate family structure. The results have shown that family structure can affect the accuracy of mutation probability models and hence genetic testing guidelines should be inclusive for single cases of breast cancer when the family structure is limited.

United States, Science & research, Research, Family, Family health, BRCA mutations, Clinical report

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The power of genetics to target surgical prevention

Article Abstract:

Genetic screening can identify people who have a gene mutation for a particular disease but have not yet developed the disease. These patients can be offered preventive treatments to reduce their risk.

Editorial, Testing, Disease susceptibility

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