Genotyping of alpha-thalassemia in microcytic hypochromic anemia patients from North India

• Autorzy: Sankar V H , Arya V , Tewari D , Gupta U R , Pradhan M , Agarwal S
• Języki publikacji: EN

Abstrakty

EN

Microcytic hypochromic anemia is a common condition in clinical practice and alpha-thalassemia has to be considered as a differential diagnosis. Molecular diagnosis of α-thalassemia is possible by polymerase chain reaction. The aim of this study was to evaluate the frequency of α-gene numbers in subjects with microcytosis. In total, 276 subjects with microcytic hypochromic anemia [MCV<80fl; MCH<27pg] were studied. These include 125 with thalassemia trait, 48 with thalassemia major, 26 with sickle-cell thalassemia, 15 with E beta-thalassemia, 40 with iron-deficiency anemia, 8 with another hemolytic anemia, and 14 patients with no definite diagnosis. Genotyping for -α³·⁷ deletion, -α⁴·² deletion, Hb Constant Spring, and α-triplications was done with polymerase chain reaction. The overall frequency of - α³·⁷ deletion in 276 individuals is 12.7%. The calculated allele frequency for α-thalassemia is 0.09. The subgroup analysis showed that co-inheritance of α-deletion is more frequent with the sickle-cell mutation than in other groups. We were able to diagnose 1/3 of unexplained cases of microcytosis as α-thalassemia carriers. The α-gene mutation is quite common in the Indian subcontinent. Molecular genotyping of α-thalassemia helps to diagnose unexplained microcytosis, and thus prevents unnecessary iron supplementation.

Słowa kluczowe

EN

human disease; patient; North India; diagnosis; alpha-thalassemia; microcytic hypochromic anaemia; India; single alpha-gene deletion

• Wydawca: -
• Czasopismo: Journal of Applied Genetics
• Rocznik: 2006
• Tom: 47
• Numer: 4
• Opis fizyczny: p.391-395,ref.

Twórcy

autor

Sankar V H

• Department of Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India

autor

Arya V

• Department of Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India

autor

Tewari D

• Department of Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India

autor

Gupta U R

• Department of Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India

autor

Pradhan M

• Department of Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India

autor

Agarwal S

• Department of Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India

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