Epidemiology of Adult T-Cell Leukaemia/Lymphoma in South Africa over a 10-Year Period.

Introduction: Adult T-cell leukaemia/lymphoma (ATLL) is a rare and aggressive malignancy of mature T-cells. Limited epidemiological studies have shown that there is substantial variation in age at diagnosis and subtype distribution between different geographical regions. This is the first epidemiological study of ATLL in South Africa.

Development of a flow cytometric method to detect the presence of mutated nucleophosmin 1 in acute myeloid leukemia.

Objective/background: Nucleophosmin 1 (NPM1) plays multiple roles in cell growth and proliferation. Deletion/insertion mutations in exon 12 of NPM1 (NPM1-DIM), commonly found in patients with acute myeloid leukemia (AML), alter the C-terminal amino acids and disrupt the normal nucleocytoplasmic shuttling function of the protein, which in turn leads to disease pathogenesis. However, this altered function as a result of NPM1-DIM positivity is actually associated with a significantly better response to therapy and overall survival, and thus it is of clinical relevance to investigate the mutation status at diagnosis.

Hb Youngstown [β101(G3)Glu → Ala; HBB: c.305A > C]: An unstable hemoglobin variant causing severe hemolytic anemia.

Hb Youngstown is a rare hemoglobin (Hb) variant caused by substitution of glutamic acid with alanine at amino acid residue 101 of the β-globin chain as a result of an A > C transversion on the β-globin gene nucleotide sequences [β101(G3)Glu → Ala; HBB: c.305A > C]. We now report three patients from two different families, one from South Africa and the other from Costa Rica, who are heterozygous for this Hb variant.

The burden of imported malaria in Cape Town, South Africa.

Background: The Western Cape Province of South Africa (SA) is not malaria endemic; however, a considerable number of patients present with malaria to our healthcare services.

Objectives: To establish the frequency of patients presenting with malaria at Groote Schuur Hospital (GSH), Cape Town, SA, and to describe their demographics, clinical outcomes and laboratory findings.

Methods: An observational, retrospective, descriptive study was conducted, which included all patients presenting with smear-positive malaria to GSH over a 4-year period between 1 April 2008 and 31 March 2012.