Dr. Hadje Kaltam Abderamane, a hematologist at N'Djamena's Renaissance Hospital, recently spoke about sickle cell disease, a genetic disorder that affects many in Chad. She explained that the disease is caused by a mutation in the hemoglobin gene, which is responsible for transporting oxygen in red blood cells. This mutation leads to the production of abnormal hemoglobin, known as hemoglobin S, which causes red blood cells to take on a sickle shape.
According to Dr. Abderamane, sickle cell disease is a hereditary condition that is transmitted in an autosomal recessive pattern. This means that a person must inherit two copies of the mutated gene, one from each parent, to develop the disease. Individuals who inherit only one copy of the mutated gene are carriers, but they are often asymptomatic. Dr. Abderamane noted that carriers can still pass the mutated gene to their offspring, who may then develop the disease.
The risk of passing on the disease is significant, with a 25% chance that two carriers will have a child with sickle cell disease, a 50% chance that their child will be a carrier, and a 25% chance that their child will not be affected. Dr. Abderamane emphasized that individuals with sickle cell disease often experience severe symptoms, including intense bone pain, swelling of the hands and feet, and chronic anemia.
Dr. Abderamane also discussed the complications that can arise from sickle cell disease, including vaso-occlusive crises, which occur when abnormal red blood cells block small blood vessels. These crises can be triggered by factors such as heat, dehydration, or infection. She stressed that many people in Chad still believe that sickle cell disease is caused by sorcery, despite the fact that it has been understood as a genetic disorder for over a century.
A recent screening event in June highlighted the prevalence of sickle cell disease in Chad, with over 200 individuals out of 465 tested found to be carriers of the mutated gene. Dr. Abderamane noted that the prevalence of the disease is particularly high in certain regions, exceeding 40%. She emphasized that there is no cure for sickle cell disease, although bone marrow transplantation is a possible treatment option, albeit a costly one.
Dr. Abderamane recommended that individuals with sickle cell disease drink plenty of water to stay hydrated and take pain medication to manage symptoms. She also stressed the importance of seeking medical attention if symptoms persist or worsen. In terms of prevention, Dr. Abderamane advised that carriers of the mutated gene should be aware of the risks and take steps to manage their condition.
The cost of managing sickle cell disease is significant, with repeated hospitalizations, medical tests, and medication placing a heavy burden on patients and their families. Dr. Abderamane called for greater support and resources to help manage the disease, including access to affordable medication and screening. She also recommended that couples who are carriers of the mutated gene undergo testing to determine their risk of having a child with sickle cell disease.
Key points
- Sickle cell disease is a genetic disorder caused by a mutation in the hemoglobin gene.
- The disease is prevalent in Chad, with over 40% of certain populations carrying the mutated gene.
- Dr. Abderamane emphasizes the importance of proper management and prevention, including hydration, pain management, and screening.
