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Study Detail

Study ID 1017
Name Boston Brazil SCD
Contact Email sankaran@broadinstitute.org
Acronym Boston Brazil SCD
Period 2011
Design Prospective Longitudinal Cohort
Study PI Vijay Sankaran
Institution Multiple institutes
URL https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs001599.v1.p1
CTGovID NA
Funding Agency NHLBI-TOPMed
Grant Number 1R01DK103794-01,1U01HL117720-01
Overview This study is part of the NHLBI Trans-Omics for Precision Medicine (TOPMed) Whole Genome Sequencing Program. This study involves sequencing of patients with a diagnosis of sickle cell disease from Brazil.
Focus Areas Whole Genome Sequencing
Outcomes The effect of SNPs on HbF levels and on pain crisis rate.
Data Location dbGaP, BioData Catalyst
Biospecimen Available Blood; DNA; Plasma; Serum;
Data Consent dbGaP
Biospecimen Consent dbGaP
Contact Consent dbGaP
Genomic Data Yes
Age Range 0-99
No. Participants 943
Inclusion Criteria All included patients had a diagnosis of sickle cell disease, including genotypes hemoglobin SS, SC, and S-beta thalassemia.
Exclusion Criteria
Study Documentation
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Data ElementVariables
Acute Anemic Episode
Aplastic Crisis
Bleeding
Other Blood Problem
Sickle Cell Disease Hemoglobinopathy
Data ElementVariables
Genitourinary Problem
Kidney Problem
Priapism Priapism
Renal Dialysis History
Data ElementVariables
Musculoskeletal Problem AVN
Osteomyelitis
Osteonecrosis
Rheumatic Diseases
Data ElementVariables
Meningitis
Neurologic Event
Seizure
Stroke Stroke
Transient Ischemic Attack
Data ElementVariables
Acute Chest Syndrome ACS
Asthma
Lung Disease
Other Respiratory Problem
Data ElementVariables
Skin Problem Leg_Ulcer
Data ElementVariables
Address
Age
Ethnic Group
Gender SEX
Language
National Origin
Nuclear Family
Race
Data ElementVariables
Blood Differential Test
Blood Gases
Blood Smear
Blood Typing
Coagulation Test
Complete Blood Count
Comprehensive Metabolic Panel (CMP)
Enzyme
General
Hemoglobin Typing B_Genotype
BS_Haplotype
HbA
HbA2
HbC
HbF
HbS
Xmn_I
Iron
Data ElementVariables
Antibiotics
Asthma
Blood Medication History
Cardiovascular
Compliance
Current Medication
Depression Medication History
Hydroxyurea HU_Treatment
Medication
Neurologic Medication History
Pain
SCD Medication
Sildenafil
Supplements
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