An Analysis of Racial and Ethnic Backgrounds Within the CASiRe International Cohort of Sickle Cell Disease Patients: Implications for Disease Phenotype and Clinical Research

• DOI: 10.1007/s40615-020-00762-2
• Publication Date: 2020-05-16T18:02:35Z
• Authors: Andrew D. Campbell; Raffaella Colombatti; Biree Andemariam; Crawford Strunk; Immacolata Tartag...; Connie M. Piccone; Deepa Manwani; Eugenia Vicky Asare; Donna Boruchov; Fatimah Farooq; Rebekah Urbonya; Gifty Dankwah Boa...; Silverio Perrotta; Laura Sainati; Angela Rivers; Sudha Rao; William Zempsky; Fredericka Sey; Catherine Segbefia; Baba Inusa; Charles Antwi-Boa...
• Keywords: Adult; Male; Biomedical Research; Adolescent; Anemia, Sickle Cell; Ghana; Cohort Studies; Ethnicity; International; Phenotype; Race; Sickle cell; Young Adult; 03 medical and health sciences; 0302 clinical medicine; Ethnicity; Humans; Child; Aged; Racial Groups; Middle Aged; United Kingdom; United States; 3. Good health; Phenotype; Italy; Child, Preschool; Female

Millions are affected by sickle cell disease (SCD) worldwide with the greatest burden in sub-Saharan Africa. While its origin lies historically within the malaria belt, ongoing changes in migration patterns have shifted the burden of disease resulting in a global public health concern. We created the Consortium for the Advancement of Sickle Cell Research (CASiRe) to understand the different phenotypes of SCD across 4 countries (USA, UK, Italy, and Ghana). Here, we report the multi-generational ethnic and racial background of 877 SCD patients recruited in Ghana (n = 365, 41.6%), the USA (n = 254, 29%), Italy (n = 81, 9.2%), and the UK (n = 177, 20.2%). West Africa (including Benin Gulf) (N = 556, 63.4%) was the most common geographic region of origin, followed by North America (N = 184, 21%), Caribbean (N = 51, 5.8%), Europe (N = 27, 3.1%), Central Africa (N = 24, 2.7%), and West Africa (excluding Benin Gulf) (N = 21, 2.4%). SCD patients in Europe were primarily West African (73%), European (10%), Caribbean (8%), and Central African (8%). In the USA, patients were largely African American (71%), Caribbean (13%), or West African (10%). Most subjects identified themselves as Black or African American; the European cohort had the largest group of Caucasian SCD patients (8%), including 21% of the Italian patients. This is the first report of a comprehensive analysis of ethnicity within an international, transcontinental group of SCD patients. The diverse ethnic backgrounds observed in our cohort raises the possibility that genetic and environmental heterogeneity within each SCD population subgroup can affect the clinical phenotype and research outcomes.