Quantifying the Presence of Lung Disease and Pulmonary Hypertension in Children With Sickle Cell Disease

The proposed research study is a cross-sectional study enrolling young children with sickle
cell disease between 5 and 12 years of age. They will be screened as outpatients for
consent to perform pulmonary function testing (PFT) and echocardiography. In addition, the
degree of bronchodilator response will be assessed at each session. To estimate presence of
pulmonary hypertension, echocardiography will be performed at the time of PFT measures.

Study Design:

1. Enroll children aged 5 to 12 years of age with sickle cell disease (HbSS, HbSC, HbS
beta plus thalassemia, HbS beta zero thalassemia, and HbS OArab) who are established
patients within the Duke Pediatric Sickle Cell Clinic.

2. Perform a chart review of all enrolled subjects to obtain specific details regarding
birth history, nutritional status (weight, height), family history, sickle cell
genotype, parental smoking history, recent laboratory parameters, parental smoking
history, any concurrent conditions (atopy, asthma, airway anomaly), history of sickle
cell complications and prescribed medications.

3. Perform spirometry and plethysmography with the administration of albuterol.

4. Before or after completion the PFT session, the patient will have echocardiography in
the PFT lab area

5. Using medical record information, determine number of hospitalizations for any
pulmonary symptoms indicative of acute chest syndrome (ACS) (dyspnea, fever, wheezing,
hypoxia, cough, chest pain). In addition, we will track any respiratory or cardiac
symptoms or therapies for each subject 6 years after enrollment up to age 18 years
using the registry.

6. As standard of care, refer any child identified as having lung disease or pulmonary
hypertension to a pediatric pulmonologist and/or cardiologist for monitoring, treatment
and ongoing care.