Ndugwa C, Higgs D, Fisher C, Hambleton I, Mason K, Serjeant B E, Serjeant G R
Sickle Cell Clinic, Department of Paediatrics and Child Health, Mulago Hospital, Kampala, Uganda.
West Indian Med J. 2012 Oct;61(7):684-91.
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
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.
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.
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.
在一项横断面研究中，比较乌干达坎帕拉穆拉戈医院镰状细胞诊所的115名乌干达患者与牙买加队列研究中的311名患者，以了解班图和贝宁单倍型纯合子镰状细胞（SS）病的血液学和临床特征。
这涉及对临床特征和血液学进行比较，特别参考严重程度的遗传决定因素，包括胎儿血红蛋白水平、β-珠蛋白单倍型和α地中海贫血状态。
班图单倍型在乌干达患者的HbS染色体中占94%，贝宁单倍型在牙买加的HbS染色体中占76%。乌干达患者患α地中海贫血的可能性略高，总血红蛋白和胎儿血红蛋白水平相似，但网织红细胞计数和总胆红素水平较高，这与更大程度的溶血一致。乌干达患者的腿部溃疡和阴茎异常勃起较少，但两组的临床表现方式、指（趾）炎患病率、骨痛特征以及通过月经初潮评估的性发育延迟程度相似。在乌干达患者中，贫血发作史很常见，但记录不佳。
乌干达班图单倍型的血液学和临床特征与牙买加的贝宁单倍型大致相似，只是乌干达患者的腿部溃疡和阴茎异常勃起较少，溶血可能更严重。乌干达的贫血发作通常通过输血进行经验性治疗，往往没有明确的诊断；需要更好地记录，包括网织红细胞计数和脾脏大小观察，以制定合适的护理模式。
