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LETTER TO EDITOR  
Year : 2011  |  Volume : 54  |  Issue : 4  |  Page : 850-851
G6PD deficiency in females screened at tertiary care hospital


1 Department of Hematology, All India Institute of Medical Sciences, New Delhi, India
2 Department of Pediatrics, Lady Hardinge Medical College, New Delhi, India

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Date of Web Publication6-Jan-2012
 

How to cite this article:
Sharma M, Dass J, Dhingra B, Saxena R. G6PD deficiency in females screened at tertiary care hospital. Indian J Pathol Microbiol 2011;54:850-1

How to cite this URL:
Sharma M, Dass J, Dhingra B, Saxena R. G6PD deficiency in females screened at tertiary care hospital. Indian J Pathol Microbiol [serial online] 2011 [cited 2014 Nov 24];54:850-1. Available from: http://www.ijpmonline.org/text.asp?2011/54/4/850/91524


Sir,

Females heterozygous for a defective glucose 6 phosphate dehydrogenase deficiency (G6PD) variant present a diagnostic challenge. [1] Unlike the males who are hemizygous for this gene and can be either normal or G6PD deficient, the females, in spite of having two G6PD genes, are either normal or deficient (homozygous or double heterozygotes), or intermediate (heterozygous). Because of X chromosome inactivation (Lyon hypothesis), heterozygous females are mosaics and since X inactivation is nonrandom, there can be varying phenotypes in heterozygotes females, with normal, intermediate or grossly deficient G6PD RBC activity, susceptibility to hemolysis and malaria and even severe neonatal hyperbilirubinemia. [1]  Lyonization More Details of the X chromosome has been observed in elderly females and is reported to increase with age thus elderly women who were biochemically not deficient at birth also have a theoretical chance of presenting with biochemical G6PD deficiency. [2] Prevalence of G6PD deficiency in women has been infrequently studied, no data is available from our country.

In steady-state conditions, a screening test is useful in those cases where the normal gene is preferentially inactivated. A total of 810 cases were screened for G6PD deficiency over 1 year duration (January to December 2009). Sixty four percent (32/50) were males while 36% (18/50) were females. 50 cases were found to be G6PD deficient (6.17%),32 were males(3.95%) and 18 were females(2.22%). Commonest indication for G6PD testing in females was prior to starting dapsone therapy of dermatologic disorders and immune thrombocytopenic purpura.

has a diverse population and a recent review summarized G6PD prevalence across the country as 0-10%. The observed prevalence 6.17% in this study is concurrent with the prevalent rate in India. [3],[4] The prevalence of G6PD deficiency detected using the biochemical screening methods in different populations is found to be in the range of 0-65% in males. [3]

The highest prevalence has been reported in the Vataliya Prajapati community and the prevalence is also high in South India and Western India. [3] Our patient population is primarily North Indian. The difference between the male and female prevalence rates conforms to the X-linked inheritance of G6PD. However, in this study, none of our female patients were elderly.

Though the fluorescent spot test is the recommended method, we have used the methemoglobin reduction test which has proved to be equally sensitive in identifying heterozygotes with as few as 5% to 10% normal or abnormal cells as an alternative easy to use screening method requiring no special instrument. [5] Though we had no access to carry out the following tests but G6PD enzyme assay and/or molecular studies, cytochemical staining method can be used to detect heterozygous G6PD deficiency. Family studies, knowledge of ethnic or geographic origin of the patient may also be useful.

Our results indicate that G6PD deficiency can be seen in females and they should be screened for it using a simple test, especially before starting any drug which can lead to hemolysis in G6PD deficient individuals.

 
   References Top

1.Lim F, Vulliamy T, Abdalla SH. An Ashkenazi Jewish woman presenting with favism. J Clin Pathol 2005;58:317-9.  Back to cited text no. 1
[PUBMED]  [FULLTEXT]  
2.Au WY, Lam V, Pang A, Lee WM, Chan JL, Song YQ, et al. Glucose-6-phosphate dehydrogenase deficiency in female Octogenarians, Nanogenarians, and Centenarians. J Gerontol A Biol Med Sci 2006;61:1086-9.  Back to cited text no. 2
    
3.Tripathy V, Reddy BM. Present status of understanding on the G6PD deficiency and natural selection. J Postgrad Med 2007;53:193-202.  Back to cited text no. 3
[PUBMED]  Medknow Journal  
4.Mohanty D, Mukherjee MB, Colah RB. Glucose-6-phosphate dehydrogenase deficiency in India. Indian J Pediatr 2004;71:525-9.  Back to cited text no. 4
[PUBMED]    
5.Beutler E. G6PD deficiency. Blood 1994;84:3613-36.  Back to cited text no. 5
[PUBMED]  [FULLTEXT]  

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Correspondence Address:
Monica Sharma
Department of Hematology, All India Institute of Medical Sciences, Ansari Nagar, New Delhi
India
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DOI: 10.4103/0377-4929.91524

PMID: 22234136

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