Pulmonary Hypertension, Hypoxia and Sickle Cell Disease

Inclusion Criteria

• •A. For PAH in children and adolescents with SCD:
• •1. The informed consent has been signed by the participant, parent or legal guardian as appropriate.
• •2. Age of 3 to 20 years.
• •1. Diagnosis of sickle cell disease (electrophoretic HPLC documentation of SS, SC, Sb thalassemia or other major sickling phenotype such as SD, SO-Arab or SLepore is required).
• •2. At least three weeks has elapsed since hospitalization for acute chest syndrome, pain crisis, infection or other complication of SCD.
• •3. Absence of acute infection, pain crisis, or other acute complication of SCD. (Chronic SCD complications such as stuttering priapism, stable chronic pain and leg ulcers are not reasons for exclusion.)
• •1. Self-described race is African American.
• •2. Absence of diagnosis of SCD as defined above and subsequent electrophoretic or HPLC documentation.
• •3. Absence of acute infection, injury, surgery or asthmatic episode.
• •1. The informed consent has been signed by the participant, parent or legal guardian as appropriate.
• •2. Age of 3 years or greater.
• •3. Absence of acute infection, pain crisis, cerebral vascular accident, thrombosis or other acute complication.
• •1. Diagnosis of SCD and electrophoretic or HPLC documentation of SS, SC, Sbeta thalassemia or other major sickling phenotype such as SD, SO-Arab or SLepore OR diagnosis of CP and evidence of homozygosity for mutation of the von Hippel-Lindau gene at position 598 from cytosine to thymidine.
• •2. At least three weeks has elapsed since hospitalization for SCD (acute chest syndrome, pain crisis, infection or other complication) or CP (cerebral vascular accident, thrombotic event or other complication).
• •3. ECHO-determined TRV of 2.5 m/sec or greater.
• •1. Diagnosis of SCD and electrophoretic or HPLC documentation of SS, SC, Sb thalassemia or other major sickling phenotype such as SD, SO-Arab or SLepore OR diagnosis of CP and evidence of homozygosity for mutation of the von Hippel-Lindau gene at position 598 from cytosine to thymidine.
• •2. At least three weeks has elapsed since hospitalization for SCD (acute chest syndrome, pain crisis, infection or other complication) or CP (cerebral vascular accident, thrombotic event or other complication).
• •3. ECHO-determined TRV less than 2.5 m/sec.
• •4. Matched by age (plus or minus 2 years), sex and ethnicity to a specific patient with SCD and PAH or CP and PAH enrolled for this same study.
• •1. Absence of diagnosis of SCD as defined above and subsequent electrophoretic documentation.
• •2. Absence of diagnosis of CP and subsequent documentation of VHL 598 wildtype.
• •3. At least three weeks has elapsed since hospitalization for illness or surgery.
• •4. Matched by age (plus or minus 2 years) and sex and ethnicity to a specific patient with SCD and PAH or CP and PAH enrolled for this same study.
• •5. Absence of diagnosis of PAH, anemia, or polycythemia.
• •1. The informed consent has been signed by the participant, parent or legal guardian as appropriate.
• •2. Age of 3 years or greater.
• •3. Absence of acute infection, pain crisis, cerebral vascular accident, thrombosis or other acute complication.
• •1. Diagnosis of SCD and electrophoretic or HPLC documentation of SS, SC, Sb thalassemia or other major sickling phenotype such as SD, SO-Arab or SLepore OR diagnosis of CP and evidence of homozygosity for mutation of the von Hippel-Lindau gene at position 598 from cytosine to thymidine.
• •2. At least three weeks has elapsed since hospitalization for SCD (acute chest syndrome, pain crisis, infection or other complication) or CP (cerebral vascular accident, thrombotic event or other complication).
• •3. ECHO-determined TRV of 2.5 m/sec or greater.
• •1. Diagnosis of SCD and electrophoretic or HPLC documentation of SS, SC, Sb thalassemia or other major sickling phenotype such as SD, SO-Arab or SLepore OR diagnosis of CP and evidence of homozygosity for mutation of the von Hippel-Lindau gene at position 598 from cytosine to thymidine.
• •2. At least three weeks has elapsed since hospitalization for SCD (acute chest syndrome, pain crisis, infection or other complication) or CP (cerebral vascular accident, thrombotic event or other complication).
• •3. ECHO-determined TRV less than 2.5 m/sec
• •4. Matched by age (plus or minus 2 years), sex and ethnicity to a specific patient with SCD and PAH or CP and PAH enrolled for this same study.
• •1. Absence of diagnosis of SCD, CP or PAH.
• •2. Self-described African-American or Chuvash ethnicity.