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Could You Have Sickle Cell Disorder and Not Know It?
Published: Mar 20, 2024
Sickle cell disorders are inherited conditions that can lead to serious health problems. Understanding these disorders can help manage symptoms and improve quality of life.
Understanding Sickle Cell Disorders
Sickle cell disorders occur when someone inherits a sickle cell variant at the beta globin locus. This may result in conditions such as sickle cell trait, which is generally benign, or more serious forms like sickle cell disease (SCD), which involves painful vaso-occlusive events and hemolytic anemia. These conditions are caused by combinations of sickle cell variants and other hemoglobin abnormalities.
How Sickle Cell Is Diagnosed
Diagnosis depends on age and typically involves protein-based tests after birth, such as electrophoresis, which separates hemoglobin types by their electrical charge. In certain cases, confirmatory DNA testing may be needed. Newborn screening is crucial for early detection and management, as symptoms usually don't appear until a few months after birth.
Why Early Detection Matters
Early detection through newborn screening can significantly reduce morbidity and mortality, especially from infections. Programs offering comprehensive care and prophylactic treatments like penicillin have lowered mortality rates in young children with SCD from 25% to less than 3%.
Frequently Asked Questions
It's a benign carrier condition with no symptoms.
Through hemoglobin electrophoresis and sometimes DNA testing.
It allows early intervention to prevent serious complications.
Symptoms include pain crises and anemia.
Key Takeaways
Understanding your genetic status can help in managing sickle cell disorders effectively.
References
- Shulman LP, Elias S. Amniocentesis and chorionic villus sampling. West J Med 1993; 159:260.
- Gaston MH, Verter JI, Woods G, et al. Prophylaxis with oral penicillin in children with sickle cell anemia. A randomized trial. N Engl J Med 1986; 314:1593.
- Odame I. Developing a global agenda for sickle cell disease: report of an international symposium and workshop in Cotonou, Republic of Benin. Am J Prev Med 2010; 38:S571.
This article has been reviewed for accuracy by one of the licensed medical doctors working for Doctronic. Always discuss health information with your healthcare provider.
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