Differences in the clinical and genotypic presentation of sickle cell disease around the world

• Published in: Paediatric respiratory reviews Vol. 15; no. 1; pp. 4 - 12
• Main Authors: Saraf, Santosh L., Molokie, Robert E., Nouraie, Mehdi, Sable, Craig A., Luchtman-Jones, Lori, Ensing, Gregory J., Campbell, Andrew D., Rana, Sohail R., Niu, Xiao M., Machado, Roberto F., Gladwin, Mark T., Gordeuk, Victor R.
• Format: Journal Article
• Language: English
• Published: England Elsevier Ltd 01.03.2014
• Subjects: Alpha thalassemia; Anemia, Sickle Cell - ethnology; Anemia, Sickle Cell - genetics; Anemia, Sickle Cell - metabolism; Echocardiogram; Ethnic Groups; Fetal Hemoglobin - genetics; Fetal Hemoglobin - metabolism; Genotype; Global Health; Hemoglobin F; Humans; Incidence; Mutation; Pediatrics; Pulmonary Function Test; Pulmonary/Respiratory; Sickle Cell Disease; Sickle Cell Disease; Echocardiogram; Pulmonary Function Test; Hemoglobin F; Alpha thalassemia

Sickle cell disease (SCD), caused by a mutation in the β-globin gene HBB, is widely distributed in malaria endemic regions. Cardiopulmonary complications are major causes of morbidity and mortality. Hemoglobin SS (Hb SS) represents a large proportion of SCD in the Americas, United Kingdom, and certa...