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OBJECTIVE: To compare the haematological and clinical features of homozygous sickle cell (SS) disease in Bantu and Benin haplotypes in a cross-sectional study of 115 Ugandan patients attending the Sickle Cell Clinic at Mulago Hospital, Kampala, Uganda, with 311 patients in the Jamaican Cohort Study METHODS: This involved comparison of clinical features and haematology with special reference to genetic determinants of severity including fetal haemoglobin levels, beta-globin haplotype and alpha thalassaemia status. RESULTS: The Bantu haplotype accounted for 94% of HbS chromosomes in Ugandan patients and the Benin haplotype for 76% of HbS chromosomes in Jamaica. Ugandan patients were marginally more likely to have alpha thalassaemia, had similar total haemoglobin and fetal haemoglobin levels but had higher reticulocyte counts and total bilirubin levels consistent with greater haemolysis. Ugandan patients had less leg ulceration and priapism, but the mode of clinical presentation, prevalence of dactylitis, features of bone pain and degree of delay in sexual development, assessed by menarche, were similar in the groups. In Ugandan patients, a history of anaemic episodes was common but these were poorly documented. CONCLUSION: The haematological and clinical features of the Bantu haplotype in Uganda were broadly similar to the Benin haplotype in Jamaica except for less leg ulceration and priapism and possibly greater haemolysis among Ugandan subjects. Anaemic episodes in Uganda were treated empirically by transfusion often without a clear diagnosis; better documentation including reticulocyte counts and observations on spleen size is necessary to evolve appropriate models of care.

Type

Journal article

Journal

The West Indian medical journal

Publication Date

2012

Volume

61

Pages

684 - 691

Keywords

Adolescent Adult Anemia, Sickle Cell/complications/*genetics/physiopathology Bilirubin/blood Child Child, Preschool Cohort Studies Cross-Sectional Studies Female Fetal Hemoglobin/analysis Haplotypes Hemoglobin, Sickle/classification/*genetics Homozygote Humans Infant Jamaica Male Middle Aged Musculoskeletal Pain/etiology Priapism/etiology Puberty, Delayed/etiology Reticulocytes/cytology Skin Ulcer/etiology Splenomegaly/diagnosis/epidemiology Uganda Young Adult alpha-Thalassemia/complications beta-Globins/classification/genetics