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Effects of α-thalassaemia mutations on the haematological parameters of β-thalassaemia carriers
  1. Nasrollah Saleh-Gohari1,
  2. Maryam Khademi Bami2,
  3. Roya Nikbakht3,
  4. Hassan Karimi-Maleh4
  1. 1Physiology Research Center, Kerman University of Medical Sciences, Kerman, Iran
  2. 2Genetic Laboratory, Afzalipour Hospital, Kerman, Iran
  3. 3Department of Biostatistics and Epidemiology, Research Centre for Modelling in Health, Institute for Futures Studies in Health, Kerman University of Medical Sciences, Kerman, Iran
  4. 4Department of Chemistry, Graduate University of Advanced Technology, Kerman, Iran
  1. Correspondence to Nasrollah Saleh-Gohari, Physiology Research Center, Kerman University of Medical Sciences, Kerman, Iran; salehgohari{at}


Background Thalassaemia is a haemoglobin disorder caused by a reduction in, or a complete absence of, the production of α- or β-globin genes. Detection of β-thalassaemia carriers is the first step in the prenatal diagnosis of the disease and is based primarily on the differences between levels of blood cell indices. Since co-inheritance of β- and α-thalassaemia mutations modulates the haematological parameters of heterozygote β-thalassaemia indices, understanding the influence of this interaction is helpful for identification of disease carriers.

Objective To determine the effects of α-thalassaemia mutations on the haematological parameters of β-thalassaemia carriers.

Method We used gap-PCR and amplification refractory mutation system techniques to find any α- and/or β-thalassaemia mutations in 270 subjects who were suspected to be thalassaemia carriers. The mean values of the haematological parameters in α, β-thalassaemia and β-thalassaemia carriers were compared.

Results Significant differences in mean corpuscular volume (MCV), mean corpuscular haemoglobin (MCH) and HbA2 were found between the two groups. Patients who were α, β-thalassaemia carriers had higher mean values of MCV and MCH, whereas HbA2 levels were higher in simple β-thalassaemia. No marked differences were found in mean cell haemoglobin (Hb) concentration and Hb blood cell indices. The value of MCV, MCH and HbA2 were significantly different between α,β-thalassaemia and simple β-thalassaemia in men and women, but the mean values of Hb in the two groups differed markedly only in men.

Conclusion We conclude that co-inheritance of α- and β-thalassaemia mutations may result in misdiagnosis of β-thalassaemia carriers. Therefore, in genetic counselling of patients with a near-normal range of blood cell indices the possibility that they may carry α, β-thalassaemia mutations must be considered.


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