Microcytic hypochromic anemia patients with thalassemia: genotyping approach.
Indian J Med Sci
;
2009 Mar; 63(3): 101-8
Article
in English
| IMSEAR
| ID: sea-67229
ABSTRACT
BACKGROUND:
Microcytic hypochromic anemia is a common condition in clinical practice, and alpha-thalassemia has to be considered as a differential diagnosis.AIMS:
This study was conducted to evaluate the frequency of alpha-gene, beta-gene and hemoglobin variant numbers in subjects with microcytic hypochromic anemia. SETTING AND DESIGNS Population-based case-control study in the Iranian population. MATERIALS ANDMETHODS:
A total of 340 subjects from southwest part of Iran were studied in the Research Center of Thalassemia and Hemoglobinopathies (RCTH), Iran. Genotyping for known alpha- and beta-gene mutations was done with gap-PCR and ARMS. In cases of some rare mutations, the genotyping was done with the help of other techniques such as RFLP and ARMS-PCR. STATISTICALANALYSIS:
Statistical analysis was carried out by SPSS 11.5 and an independent-sample t test.RESULTS:
Out of the total 340 individuals, 325 individuals were evaluated to have microcytic hypochromic anemia based on initial hematological parameters such as MCV<80 fl; MCH<27 pg; the remaining 15 patients were diagnosed with no definite etiology. The overall frequency of -alpha3.7 deletion in 325 individuals was 20.3%. The most frequent mutations were IVS II-I, CD 36/37 and IVS I-110 with frequencies of 6.31%, 5.27% and 1.64%, respectively. Only, there was a significant difference between beta-thalassemia trait and beta-thalassemia major with regard to MCV (P<0.05) and MCH (P<0.05) indices, and also MCH index between beta-thalassemia trait and Hb variants (P<0.05).CONCLUSION:
Molecular genotyping provides a rapid and reliable method for identification of common, rare and unknown alpha- and beta-gene mutations, which help to diagnose unexplained microcytosis and thus prevent unnecessary iron supplementation.
Full text:
Available
Index:
IMSEAR (South-East Asia)
Main subject:
Humans
/
Genetic Techniques
/
Alpha-Thalassemia
/
Diagnosis, Differential
/
Alpha-Globins
/
Beta-Globins
/
Genotype
/
Anemia, Hypochromic
/
Iran
/
Mutation
Type of study:
Diagnostic study
/
Observational study
/
Prognostic study
/
Risk factors
Country/Region as subject:
Asia
Language:
English
Journal:
Indian J Med Sci
Year:
2009
Type:
Article
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