Haemoglobinopathies among students of the peoples' friendship university of russia (RPFU) and observation of a unique case of sickle-cell anaemia (patient from tanzania)

详细

For a period of thirty years, the Department of Internal Medicine (PFUR), in collaboration with the Institute of Biochemistry of the Russian Academy of Medical Sciences, Polyclinic № 25 (RPFU), carried out case studies of up to ten thousand students; 500 cases of HbAS were isolated and many more with different forms of sickle-cell pathologies were found. However, only one case of homozygous sickle-cell (HbSS) pathology was discovered in a thirty-year old student from Tanzania. The uniqueness of this case is the relatively mild course of the disease (normally patients die at childhood) and the reduced levels of HbF which allows for the assumption of a combination of HbSS with the heterozygosis form of a-thalassaemia (it has been proven that a combination of the two takes a milder course). Confirmation of this assumption will require biochemical studies of the hemoglobin-fractions of case's parents, which was not carried out, understandably due to geographical barriers (parents are residing in Tanzania).