RNA-Seq of Whole Blood from Pediatric Sickle Cell Anemia (SCA) Patients

The aim of this study is to define the immune cell transcriptome by next generation RNA sequencing in blood from individuals with SCA, in comparison to healthy African American controls. This study has a cross-sectional case-control design. We will compare the transcriptome profiles of blood mononuclear cells from healthy age-matched African American children without cardiovascular disease or risk factors (“Controls”) to those of children with SCA, age 5 -21 years, who are not receiving chronic red blood cell transfusions or hydroxyurea therapy to identify genes that are differentially expressed in SCA. 

• Study Design:
  • Case-Control
• Study Type:
  • Case-Control
• Total number of consented subjects: 48
• Subject Sample Telemetry Report (SSTR)

• BioProject
• Sequence Read Archive
• BioSample
• MeSH

Inclusion Criteria:

Healthy Controls:

• Self-described African American children ages 5 -21 years old, with Hemoglobin genes AA, AS, AC or β-thalassemia trait.

Sickle Cell Anemia (SCA):

• Self-identified African American children with Hemoglobin SS or S-β0-thalassemia, ages 5-21 years old, who have not received red blood cell transfusions within the past 3 months, or hydroxyurea therapy in the past 6 months. 
  • NO Cerebral Arteripoathy: Absence of evidence of significant large vessel cerebral arteriopathy or history of stroke. Absence of high stroke risk will be affirmed by a TCD examination with velocities in the normal range (< 170 cm/sec) or normal brain and cerebral artery anatomy by magnetic resonance imaging within the past year, in a subject not receiving chronic red blood cell transfusions. Individuals with other hemoglobin genotypes, such as SC, S-β+thalassemia, etc., will be excluded.
  • WITH Cerebral Arteriopathy: Evidence of large vessel Cerebral Arteriopathy, including history of symptomatic ischemic stroke confirmed by imaging study (MRI or CT scan), or by neurological evaluation; cerebral artery stenosis confirmed by imaging study (MRA or angiogram), with or without a clinical history of symptomatic ischemic stroke; or Abnormal Transcranial Doppler (TCD) study (mean velocity > 200 cm/sec), confirmed on two occasions. Samples will be drawn prior to initiation of chronic transfusion therapy.

Exclusion Criteria:

Individuals with the following conditions will not be enrolled in the study:

• Acute medical problems (ex. fever, pain, respiratory symptoms, or other acute illness)
• Chronic diseases of lung, liver, kidney, GI tract, including rheumatologic and chronic inflammatory conditions
• Pregnancy
• Cardiovascular disease or risk factors
• Overweight or obesity (body mass index, BMI) > 95th percentile for age
• High cholesterol or other hyperlipidemia
• Previously diagnosed diabetes
• Cigarette smoking, at least 5 per day in past month
• Receiving medications for hypertension
  
  

• Primary Phenotype: Anemia, Sickle Cell
• Blood

• Principal Investigators
  • Robert Meller, PhD. Morehouse School of Medicine, Atlanta, GA, USA.
  • Beatrice Ge, MD. Morehouse Healthcare, Atlanta, GA USA.
• Funding Sources, Robert Meller
  • U54CA118638. National Cancer Institute, National Institutes of Health, Bethesda, MD, USA.
  • MD007602. National Institute on Minority Health and Health Disparities, National Institutes of Health, Bethesda, MD, USA.
• Funding Source, Beatrice Gee
  • P50HL117929. National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD, USA.