title: Two different forms of homozygous sickle cell disease occur in Saudi Arabia.
abstract: Haematological, clinical and some molecular genetic features of homozygous sickle cell (SS) disease in Saudi Arabia have been compared in 33 patients from the Eastern Province (Eastern) and 30 from the South Western Province (Western). Eastern patients all had the Asian beta globin haplotype whereas Western patients were more variable but predominantly of the Benin haplotype. Eastern patients had more deletional alpha thalassaemia, higher total haemoglobin and fetal haemoglobin levels, and lower HbA2, mean cell volume, reticulocytes, and platelet counts. Clinically, Eastern patients had a greater persistence of splenomegaly, a more normal body build and greater subscapular skin fold thickness, and Western patients had more dactylitis and acute chest syndrome. Painful crises and avascular necrosis of the femoral head were common and occurred equally in both groups. The disease in the Eastern province has many mild features consistent with the higher HbF levels and more frequent alpha thalassaemia but bone pathology (painful crises, avascular necrosis of the femoral head, osteomyelitis) remains common. The disease in the West is more severe consistent with the Benin haplotype suggesting an African origin.
authors.affiliation: Department of Oncology, King Faisal Specialist Hospital, Riyadh.
authors.forename: M A
authors.initials: MA
authors.lastname: Padmos
authors.forename: G T
authors.initials: GT
authors.lastname: Roberts
authors.forename: K
authors.initials: K
authors.lastname: Sackey
authors.forename: A
authors.initials: A
authors.lastname: Kulozik
authors.forename: S
authors.initials: S
authors.lastname: Bail
authors.forename: J S
authors.initials: JS
authors.lastname: Morris
authors.forename: B E
authors.initials: BE
authors.lastname: Serjeant
authors.forename: G R
authors.initials: GR
authors.lastname: Serjeant
mesh_terms: D000293:Adolescent; D000328:Adult; D000755:Anemia, Sickle Cell / Q000097:blood / Q000145:classification* / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D004909:Erythrocyte Indices / Q000502:physiology; D005260:Female; D005319:Fetal Hemoglobin / Q000032:analysis; D005914:Globins / Q000235:genetics; D006239:Haplotypes / Q000502:physiology; D006443:Hemoglobin A2 / Q000032:analysis; D006801:Humans; D007223:Infant; D008297:Male; D008875:Middle Aged; D012529:Saudi Arabia
chemical_list: D005914:Globins; D006443:Hemoglobin A2; D005319:Fetal Hemoglobin