Loading...
People with sickle cell disease (SCD) are homozygous for the glutamic-acid-to-valine substitution in the β-globin chain of hemoglobin. But the variability in clinical severity of SCD suggests the presence of modifier genes that contribute to disease complications. In fact, one such complication, pulmonary hypertension (PH) — present in up to 30% of adult sickle cell disease patients and linked with considerable morbidity and mortality — has been associated with specific genetic polymorphisms in PH patients (Eur Respir J 2004; 24:371).
To investigate genetic risk factors for PH in SCD patients, investigators collected genotyping samples from 518 unrelated adult patients with sickle cell anemia, SCD, or sickle-thalassemia. PH was defined by ec…