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Two different forms of homozygous sickle cell disease occur in Saudi Arabia
Author(s) -
Padmos M. A.,
Sackey K.,
Roberts G. T.,
Kulozik A.,
Bail S.,
Morris J. S.,
Serjeant B. E.,
Serjeant G. R.
Publication year - 1991
Publication title -
british journal of haematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.907
H-Index - 186
eISSN - 1365-2141
pISSN - 0007-1048
DOI - 10.1111/j.1365-2141.1991.tb08013.x
Subject(s) - avascular necrosis , dactylitis , haplotype , femoral head , medicine , hemoglobinopathy , disease , sickle cell anemia , fetal hemoglobin , thalassemia , acute chest syndrome , pathology , surgery , genotype , fetus , biology , pregnancy , genetics , gene , enthesitis , psoriatic arthritis
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 HbA 2 , 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.