Study of the Week: Nearly a Fifth of Sickle Cell Disease Patients May Develop Craniosynostosis

Welcome to Study of the Week from Patient Worthy. In this segment, we select a study we posted about from the previous week that we think is of particular interest or importance and go more in-depth. In this story we will talk about the details of the study and explain why it’s important, who will be impacted, and more.

If you read our short form research stories and find yourself wanting to learn more, you’ve come to the right place.


This week’s study is…

Sickle cell disease association with premature suture fusion in young children

We previously published about this research in a story titled “An Estimated 20% of Children with SCD Develop Craniosynostosis” which can be found here. The study was originally published in the scientific journal Plastic and Reconstructive Surgery – Global Open. You can read the full text of the study here

What Happened?

Craniosynostosis is a defect in which at least one of the cranial sutures begins to close before the brain has completed its development. The condition is often detected before birth and can lead to a misshapen skull and other problems. Craniosynostosis has been reported alongside sickle cell disease, a rare genetic disorder, in case reports and small-scale research. In this study, the research team sought to understand the connection between the two conditions more clearly and investigate them on a larger scale.

This study was a retrospective review of CT scans of sickle cell disease patients between ages 0 and 8 years from 2012 to 2020. The scientists drew on data from a total of 94 patients. 54.3 percent of these patients were male, 9.6 percent were preterm births, and 96.8 percent of patients were of African ancestry. The team found that craniosynostosis was present in 19.1 percent of the patients, or 18 out of 94. Of this group, all patients were of African ancestry and 55.6 percent were females. While craniosynostosis can impact various cranial sutures, the sagittal suture was affected in all of these patients.

The scientists then compared this group with the patients that were free of the condition and found that the craniosynostosis group was more likely to have relatives with sickle cell disease; in fact, the risk was 14x higher in those with a first-degree relative with the disease. A family history of neurodevelopmental illness and having used folic acid as part of treatment also increased the risk. Patients with vasculopathy caused by sickle cell disease were also eight times more likely to have craniosynostosis. 

Overall, these results established a clear link between craniosynostosis and sickle cell disease and also identified potential risk factors for craniosynostosis to occur in people living with sickle cell.

About Sickle Cell Disease

Sickle cell disease is a genetic, inherited disorder of the blood. This disorder is characterized by an abnormality affecting hemoglobin, which is found in red blood cells and is responsible for carrying oxygen. The abnormality causes blood cells to lose their typical circular shape and instead take on an elongated, sickle-like appearance. This is caused by a genetic mutation that may have arisen as a defense against malaria, although this benefit only occurs in people with sickle cell trait, not the disease. Symptoms begin to appear at around six months old and include swelling of the hands and feet, stroke, bacterial infections, and acute episodes of severe pain termed sickle cell crisis. Severity of disease varies, but these attacks can result in serious declines in health and organ damage. Treatment is mostly symptomatic, but bone marrow transplant has been curative in children. The disease most frequently affects people of African ancestry. Life expectancy is between 40 and 60. To learn more about sickle cell disease, click here.

About Craniosynostosis

Craniosynostosis is a condition in which at least one of the sutures in an infant’s skull fuse prematurely, leading to changes in the skull growth pattern. This can lead to an abnormal head shape and facial features. Multiple causes of the condition have been identified; in some instances, craniosynostosis is the result of a genetic mutation, but at other times, a combination of hormones, biomechanical factors (such as fetal head constraint), and environmental changes may play a role. The principal symptom is abnormal skull shape, which varies depending in which suture/sutures are affected. If the skull is too small for the growing brain, symptoms such as vision loss, eating problems, difficulty sleeping, or intellectual disability may occur. Well-timed surgery is the only treatment for the condition. To learn more about craniosynostosis, click here.

Why Does it Matter?

The results of this study have helped the scientific community understand more clearly the connection between craniosynostosis and sickle cell disease, two conditions that are seemingly unrelated. The study has also given an estimate on the prevalence of craniosynostosis in the sickle cell disease population.

These findings are just the start of a new avenue of research, and further study will help determine the impact and clinical relevance of them. One thing can be said clearly, however: centers that treat children with sickle cell disease need to be prepared to diagnose craniosynostosis and follow up with the patients that develop it. 

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