Digital Repository

The clinical effects of excessive a globin genes : two family studies

Show simple item record Premawardhena, A.P. Fisher, C.A. Rugless, M. de Silva, S. Perera, A.W.V.S. Olivien, N.F. Weatherall, D.J. 2016-04-11T07:41:56Z 2016-04-11T07:41:56Z 2003
dc.identifier.citation Sri Lanka Medical Association, 116th Anniversary Academic Sessions. 2003; 26 en_US
dc.identifier.issn 0009-0895
dc.description Oral Presentation Abstract (OP 02), 116th Anniversary Academic Sessions, Sri Lanka Medical Association, 26-29 March 2003 Colombo, Sri Lanka en_US
dc.description.abstract INTRODUCTION: Globin chain imbalance is the central pathogenic abnormality in the thalassaemias, a condition where globin gene expression is reduced. Conversely, the inheritance of excess globin genes too may affect the phenotype. However such examples are rarely found. OBJECTIVES: To describe two families in whom the co-existence of excess a genes was noted together with p - thalassaemia trait. METHODS: During the routine P - globin gene analysis in patients attending the Thalassaemia Unit of the Kurunegala Hospital, two patients were identified to have thalassaemia intermedia phenotype, but with just one (3 - thalassaemia mutation. The clinical details of these patients and their families were studied in detail as was their h'aematological and genetic data. RESULTS: We describe two families in which the propositus had inherited six and eight a - genes respectively together with a single p - thalassaemia mutation. Both patients had the thalassaemia intermedia phenotype. The family members who did not inherit any thalassaemic mutations too had varying, but often marked hypochromic microcytosis. DISCUSSION: We describe the first ever family study of a patient with the combination of 8 a - genes and p - thalassaemia trait. We also describe another family where a member had 6 a - genes together with p thalassaemia trait. This highlights yet another mechanism for the intermedia phenotype in patients with a solitary (3 - globin gene mutation. It also highlights the need for the study of a globin genes in patients with unexplained hypochromic microcytic anaemia. en_US
dc.language.iso en_US en_US
dc.publisher Sri Lanka Medical Association en_US
dc.subject clinical effects en_US
dc.title The clinical effects of excessive a globin genes : two family studies en_US
dc.type Article en_US

Files in this item

Files Size Format View

There are no files associated with this item.

This item appears in the following Collection(s)

  • Conference Papers
    Papers presented at local and international conferences by the Staff of the Faculty of Medicine

Show simple item record

Search Digital Repository


My Account