Alpha thalassaemia in tribal communities of coastal Maharashtra, India

Background & objectives: In a routine community health survey conducted in adult Adivasis of the costal Maharashtra, microcytosis and hyprochromia were observed in more than 80 per cent of both males and females having normal haemoglobin levels suggesting the possibility of α-thalassaemia in the...

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Main Authors: Madhav G Deo, Prakash V Pawar
Format: Article
Language:English
Published: Wolters Kluwer Medknow Publications 2014-01-01
Series:Indian Journal of Medical Research
Subjects:
Online Access:http://www.ijmr.org.in/article.asp?issn=0971-5916;year=2014;volume=140;issue=2;spage=231;epage=237;aulast=Deo
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spelling doaj-ec5d0a226b6f4b55b6b4003d759ce9872020-11-24T23:21:35ZengWolters Kluwer Medknow PublicationsIndian Journal of Medical Research0971-59162014-01-011402231237Alpha thalassaemia in tribal communities of coastal Maharashtra, IndiaMadhav G DeoPrakash V PawarBackground & objectives: In a routine community health survey conducted in adult Adivasis of the costal Maharashtra, microcytosis and hyprochromia were observed in more than 80 per cent of both males and females having normal haemoglobin levels suggesting the possibility of α-thalassaemia in these communities. We conducted a study in Adivasi students in the same region to find out the magnitude of α-thalessaemia. Methods: The participants (28 girls and 23 boys) were 14-17 yr old studying in a tribal school. Fasting venous blood samples (5 ml) were subjected to complete blood count (CBC), Hb-HPLC and DNA analysis using gap-PCR for deletion of - α3.7 and - α4.2, the two most common molecular lesions observed in α-thalassaemia in India. Results: Microcytic hypochromic anaemia was observed 50 and 35 per cent girls and boys, respectively. Iron supplementation improved Hb levels but did not correct microcytois and hypochromia. m0 ore than 80 per cent non-anaemic students of both sexes showed microcytois and hypochromia. DNA analysis confirmed that the haematological alterations were due to α-thalassaemia trait characterized by deletion of - α3.7. Majority (> 60%) of the affected students had two deletions (-α3.7/-α3.7 genotype α+ thalassaemia. Interpretation & conclusions: This is perhaps the first report on the occurrence of α-thalassaemia in tribal communities of coastal Maharashtra. Very high (78.4%) haplotype frequency of -α3.7 suggests that the condition is almost genetically fixed. These preliminary observations should stimulate well planned large scale epidemiological studies on α-thalassaemia in the region.http://www.ijmr.org.in/article.asp?issn=0971-5916;year=2014;volume=140;issue=2;spage=231;epage=237;aulast=DeoAlpha thalassaemia - tribals - western MaharashtraIndia
collection DOAJ
language English
format Article
sources DOAJ
author Madhav G Deo
Prakash V Pawar
spellingShingle Madhav G Deo
Prakash V Pawar
Alpha thalassaemia in tribal communities of coastal Maharashtra, India
Indian Journal of Medical Research
Alpha thalassaemia - tribals - western Maharashtra
India
author_facet Madhav G Deo
Prakash V Pawar
author_sort Madhav G Deo
title Alpha thalassaemia in tribal communities of coastal Maharashtra, India
title_short Alpha thalassaemia in tribal communities of coastal Maharashtra, India
title_full Alpha thalassaemia in tribal communities of coastal Maharashtra, India
title_fullStr Alpha thalassaemia in tribal communities of coastal Maharashtra, India
title_full_unstemmed Alpha thalassaemia in tribal communities of coastal Maharashtra, India
title_sort alpha thalassaemia in tribal communities of coastal maharashtra, india
publisher Wolters Kluwer Medknow Publications
series Indian Journal of Medical Research
issn 0971-5916
publishDate 2014-01-01
description Background & objectives: In a routine community health survey conducted in adult Adivasis of the costal Maharashtra, microcytosis and hyprochromia were observed in more than 80 per cent of both males and females having normal haemoglobin levels suggesting the possibility of α-thalassaemia in these communities. We conducted a study in Adivasi students in the same region to find out the magnitude of α-thalessaemia. Methods: The participants (28 girls and 23 boys) were 14-17 yr old studying in a tribal school. Fasting venous blood samples (5 ml) were subjected to complete blood count (CBC), Hb-HPLC and DNA analysis using gap-PCR for deletion of - α3.7 and - α4.2, the two most common molecular lesions observed in α-thalassaemia in India. Results: Microcytic hypochromic anaemia was observed 50 and 35 per cent girls and boys, respectively. Iron supplementation improved Hb levels but did not correct microcytois and hypochromia. m0 ore than 80 per cent non-anaemic students of both sexes showed microcytois and hypochromia. DNA analysis confirmed that the haematological alterations were due to α-thalassaemia trait characterized by deletion of - α3.7. Majority (> 60%) of the affected students had two deletions (-α3.7/-α3.7 genotype α+ thalassaemia. Interpretation & conclusions: This is perhaps the first report on the occurrence of α-thalassaemia in tribal communities of coastal Maharashtra. Very high (78.4%) haplotype frequency of -α3.7 suggests that the condition is almost genetically fixed. These preliminary observations should stimulate well planned large scale epidemiological studies on α-thalassaemia in the region.
topic Alpha thalassaemia - tribals - western Maharashtra
India
url http://www.ijmr.org.in/article.asp?issn=0971-5916;year=2014;volume=140;issue=2;spage=231;epage=237;aulast=Deo
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