Abstract

LOONAT, S B; NARAN, N H; THEIN, S L  and  ALLI, N A. Alpha-thalassaemia trait as a cause of unexplained microcytosis in a South African population. SAMJ, S. Afr. med. j. [online]. 2016, vol.106, n.3, pp.276-279. ISSN 2078-5135.  https://doi.org/10.7196/samj.2016.v106i3.10005.

BACKGROUND: Red cell microcytosis is a common abnormality detected in a full blood count, which often prompts clinicians to investigate further for a cause. In the absence of iron deficiency and anaemia of chronic disease, the differential diagnosis includes β-thalassaemia trait and α-thalassaemia trait. METHODS: We investigated the contribution of α-thalassaemia trait in South African subjects with unexplained microcytosis. Iron studies, haemoglobin subfractionation and multiplex polymerase chain reaction (PCR) analysis for α-globin gene deletions were performed on 97 controls and 86 patients. RESULTS: After excluding iron deficiency, anaemia of chronic disease and β-thalassaemia trait, 78.0% of subjects with unexplained microcytosis were confirmed on PCR analysis to have α-thalassaemia trait. CONCLUSION: Alpha-thalassaemia trait accounts for the majority of unexplained microcytosis.

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