Cystic Fibrosis in Africa

What is it about?

In this paper, we brought together all the research we could find that had been done on African patients to identify mutations that could cause cystic fibrosis (CF). We found that only 12 African countries (of 54) had any available data on CF-causing mutations. We also found that 79 mutations had been identified, 21 of which had only ever been described in Africa.

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Why is it important?

Initially, it was assumed that CF could only affect White patients. This has since been disproved; the first Black CF patient was identified in South Africa (that data was published in 1959). Despite this, this misconception continues to linger, which leads to misdiagnosis of CF patients who are not White. (There are other issues which make it difficult to diagnose African CF patients as well which we describe in the paper). This is a problem because patients diagnosed late (after they are 6 weeks old) spend more time in hospital, are more likely to need a lung transplant and have worse cognitive function than those diagnosed soon after birth. Delayed diagnosis is part of the reason African CF patients can only expect to live to be about 20 whereas CF patients in Europe & North America are living to be about 40 - 50 years old. We propose a public health strategy that should drive down treatment costs for this disease while at the same time increasing life expectancy for Africans with this illness.