Abstract
Sickle cell anaemia is prevalent in sub Saharan Africa. While α+-thalassaemia is known to modulate sickle cell anaemia, its magnitude and significance in Uganda have hitherto not been described. To determine the prevalence of α+thalassaemia among sickle cell anaemia patients in Mulago Hospital and to describe the clinical and laboratory findings in these patients. A cross sectional study was carried out on patients with sickle cell anaemia in Kampala. Dried blood spots were used to analyze for the deletional α+ thalassaemia using multiplex polymerase chain reaction. Of the 142 patients with sickle cell anaemia, 110 (77.5%) had the αα+thalassaemia deletion. The gene frequency of (-α) was 0.425. Ninety one percent (100/110) of those with α+thalassaemia were heterozygous (αα/α-). Amongst the patients older than 60 months, 15 (83.3%) of those without αα+thalassaemia had significant hepatomegaly of greater than 4 cm compared to 36 (45.6%) of those with α+thalassaemia (p=0.003). The gene frequency of (-α) of 0.425 noted in this study is higher than that reported from many places in Africa. Concurrent alpha thalassemia might be a protective trait against significant hepatomegaly in sickle cell anaemia patients more than 60 months of age at Mulago hospital.
Highlights
In the early 1960’s many adults with sickle cell anaemia (SCA) as well as those with mild disease were reported in Jamaica[1]
While there have been reports of α+ -thalassaemia elsewhere in Africa, there is a dearth of information on its prevalence and interaction with sickle cell anaemia in Uganda[13,14,15]
The main objective of the current study was to determine the prevalence of α+-thalassaemia among SCA patients attending the sickle cell clinic at Mulago national referral hospital Kampala, using multiplex polymerase chain reaction (MPCR), and to describe laboratory and clinical findings in these patients
Summary
In the early 1960’s many adults with sickle cell anaemia (SCA) as well as those with mild disease were reported in Jamaica[1] Various factors, both genetic and environmental, are known to influence the clinical course and survival of patients with SCA. Alpha thalassaemia tends to ameliorate some but not all of the clinical features of SCA6-8 It is widespread in Africa and is thought to reflect a survival advantage against severe malaria[9,10,11,12]. Conclusion: The gene frequency of (-α) of 0.425 noted in this study is higher than that reported from many places in Africa. Concurrent alpha thalassemia might be a protective trait against significant hepatomegaly in sickle cell anaemia patients more than 60 months of age at Mulago hospital
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