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.

Sickle cell disorders are inherited conditions characterized by abnormal hemoglobin, leading to health issues like vaso-occlusive events and hemolytic anemia.

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.

Next steps: Discuss your genetic risk for sickle cell disorder with Doctronic today.

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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.

Always discuss health information with your healthcare provider.