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. 2011 Mar;46(1):41-4.
doi: 10.5045/kjh.2011.46.1.41. Epub 2011 Mar 15.

Role of iron deficiency anemia in the propagation of beta thalssemia gene

Muhammad Usman  1 , Moinuddin Moinuddin, Syed Azhar Ahmed
Affiliations

Role of iron deficiency anemia in the propagation of beta thalssemia gene

Muhammad Usman et al. Korean J Hematol. 2011 Mar.

Abstract

Background: The diagnostic criterion for beta thalassemia trait (BTT) is elevated Hb-A(2) levels. Iron deficiency anemia (IDA) reduces the synthesis of Hb-A(2), resulting in reduced Hb-A(2) levels, so patients with co-pathological conditions BTT with IDA, may have a normal level of Hb-A(2). Many socio-economic factors like unawareness, poor diagnostic facilities, and cost of molecular diagnosis (for screening purposes) result in interpretation of these subjects as normal.

Methods: Venous blood samples from 200 unmarried females having a family history of thalassemia were collected, and basic hematological parameters, hemoglobin electrophoresis, and molecular analysis for beta thalassemia were done. Patients with IDA and patients with co-pathological conditions BTT and IDA were treated with oral iron. These subjects were then followed for a period of 20 weeks.

Results: Of the 200 females, 34 were found to be anemic. Hemoglobin electrophoresis identified 16 of these patients as BTT. Molecular analysis of all patients confirmed this diagnosis, but identified 8 additional patients with BTT. Eight patients that were not detected with hemoglobin electrophoresis were found to have co-pathology of BTT with IDA.

Conclusion: Patients with the co-pathological condition BTT with IDA may be interpreted as being normal, as they have normal Hb-A(2) levels. These misdiagnosed subjects when marry with BTT have the potential to produce beta thalassemia major in offspring. This is one of the factors playing a major role in the propagation of beta thalassemia gene in Pakistani population, and become a serious hindrance for the thalassemia prevention program in Pakistan.

Keywords: Beta thalassemia minor; Hemoglobin-A2; Iron deficiency anemia.

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Figures

Fig. 1
Fig. 1
Mutation bands of thalassemic genes in an agarose gel showing Codon 41/42 (-TTCT) and Codon 8/9 (+G) and IVS1-5 (G→C). The Arabic numbers represent patient numbers. (A) 6a shows Codon 41/42 (-TTCT) and (B) 5 shows IVS1-5 (G→C) and 10, 11, 12, 14, 15 show Codon 8/9 (+G). M represents 50-bp-size marker.
See this image and copyright information in PMC

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