Pakistan Journal of Medical Sciences

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Volume 24

 January - March 2008

Number  1


 

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Genotyping of thalassemia in microcytic hypochromic
anemia patients from Southwest Region of Iran

Fakhar Rahim1

ABSTRACT

Objective: To evaluate the frequency of -gene, -gene, and hemoglobin variant numbers in subjects with Microcytic hypochromic anemia.

Methodology: In total out of 850, 340 subjects with microcytic hypochromic anemia [MCV<80fl; MCH<27pg] from Southwest part of Iran, were studied in Research Center of Thalassemia and Hemoglobinopathies (RCTH) which is the only center working on hematology and oncology in Southwest (Khuzestan) region of Iran. These include 325 individuals: 171 with Beta-thalassemia trait, 88 with Alpha-thalassemia trait, 13 with thalassemia major, 11 with hemoglobin variants (HbS, HbC, and HbD Punjab) and 42 with iron-deficiency anemia. The rest 15 patients diagnosed with no definite etiology.

Results: Genotyping for -α3.7, -α4.2, α PA, -α 5NT and - - MED was done with gap-PCR. The overall frequency of -α 3.7 deletion in 325 individuals is 20%. Genotyping for 23 most known -gene mutations was done with direct mutation analysis by Amplification Refractory Mutation System (ARMS). The most frequent mutations were CD 36/37, IVS II-I, and IVS I-110 with 9.7%, 11.7%, and 3.5% respected frequencies in 340 patients. There was statistically significant difference between Beta-thalassemia trait and Beta-thalassemia Major in case of MCV (p- value = 0.25) and MCH (Pvalue =0.23) indices, and also MCH index between Beta-thalassemia trait and Hb Variants (P-value = 0.04).

Conclusion: The -α gene and -gene mutation is quite common in the Southwest part of Iran. Molecular genotyping of -α thalassemia and -thalassemia help to diagnose unexplained microcytosis, and thus prevent unnecessary iron supplementation.

KEY WORDS: Alpha-gene deletions, Beta-gene mutations, Evaluation of anemia, Microcytic hypochromic anemia, Southwest part of Iran.

Pak J Med Sci    January - March 2008    Vol. 24 No. 1    23-28


1. Fakher Rahim,
M.Sc Bioinformatics,
Research Center of Thalassemia & Hemoglobinopathies,
Physiology Research Center,
Ahwaz Jondishapur University of Medical Sciences,
Ahwaz Iran.

Correspondence

Fakher Rahim
E-mail: fakherraheem@yahoo.com

* Received for Publication: September 17, 2007

* Revision Accepted: November 3, 2007



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