Related Experiment Videos
Transcranial Doppler ultrasonography in siblings with sickle cell disease
Janet L Kwiatkowski1, Jill V Hunter, Kim Smith-Whitley
1Division of Hematology, The Children's Hospital of Philadelphia, Wood Building, 4th Floor, 34th Street & Civic Center Boulevard, Philadelphia, PA 19104, USA. kwiatkowski@email.chop.edu
Insights
Familial factors may increase stroke risk in sickle cell disease (SCD). Children with SCD and a sibling with abnormal blood flow velocity readings have a significantly higher risk of stroke.
Area of Science:
- Neurology
- Hematology
- Genetics
Background:
- Stroke is a significant risk in sickle cell disease (SCD).
- Elevated cerebral blood flow velocity, measured by transcranial Doppler (TCD), predicts stroke risk in children with SCD.
- The role of familial predisposition in this risk marker is not fully understood.
Purpose of the Study:
- To investigate familial predisposition to elevated cerebral blood flow velocity in children with SCD.
- To assess the correlation of TCD results among siblings with SCD.
- To determine if having a sibling with abnormal TCD findings increases stroke risk in children with SCD.
Main Methods:
- Analysis of TCD studies from 63 children with SCD across 29 families.
- Assessment of the association between sibling TCD results, age, and hemoglobin levels.
- Comparison of TCD velocities between children with and without siblings with abnormal TCD findings, matched for key factors.
Main Results:
- Positive TCD results showed a high correlation (r = 0.61) between family members.
- Children with a sibling who had a positive TCD result had a significantly higher risk of elevated cerebral blood flow velocity (OR = 50.7, P < 0.001).
- Children with a sibling with abnormal TCD findings exhibited higher TCD velocities compared to matched SCD patients without affected siblings.
Conclusions:
- Results suggest a familial predisposition to cerebral vasculopathy in sickle cell disease.
- Family history of abnormal TCD findings is a significant risk factor for elevated cerebral blood flow velocity in children with SCD.
- These findings highlight the potential role of genetic or shared environmental factors in SCD-related cerebrovascular complications.
Abstract:
The risk of stroke in sickle cell disease (SCD) may be influenced by either genetic or environmental factors. Elevated blood flow velocity in the large cerebral arteries, detected by transcranial Doppler (TCD) ultrasonography, predicts an increased stroke risk in children with SCD. We undertook this study to investigate the possibility of a familial predisposition to elevated cerebral blood flow velocity, a surrogate marker for stroke risk. We analysed the results of TCD studies performed on 63 children from 29 families that had more than one child with SCD. We assessed the association of elevated cerebral blood flow velocity with sibling TCD results as well as age and haemoglobin level, which are factors known to affect cerebral blood flow velocity. Positive or negative TCD results were highly correlated between family members (r = 0.61). The presence of a sibling with a positive TCD result was significantly associated with an elevated cerebral blood flow velocity in other siblings with SCD (odds ratio = 50.7, 95% confidence interval 10.1-253.7, P < 0.001). Furthermore, children who had a sibling with a positive TCD result had a significantly higher TCD velocity than children with SCD but without a sibling who were matched for age, sex, genotype and haemoglobin level. Our results are consistent with a familial predisposition to cerebral vasculopathy in SCD.