Haemoglobinopathy screening can be carried out in general practice

doi:10.1136/bmj.320.7248.1542

BMJ 2000;320:1542 ( 3 June )

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Haemoglobinopathy screening can be carried out in general practice

The first 150 words of the full text of this article appear below.

EDITOR $---$ Modell et al found that only half the couples at risk of having a child with thalassaemia received a service that allowedthem an informed choice in genetic screening for the condition,with wide variation by region and ethnic group.¹ For informedchoice to be translated into the practical reality of a prenataldiagnostic procedure, haemoglobinopathy screening needs to beundertaken in the firsttrimester.

In general practice the window of opportunity is small, as many mothers do not present for confirmation of pregnancy untilafter their second missed period. Even with early electrophoresis,if the woman is found to be a carrier it is necessary then tofind her partner and persuade him to come fortesting.

To overcome these time constraints, the practice where I work offers all men and women haemoglobinopathy screening based ontheir self perception of risk. Screening is undertaken at a registration. . . [Full text of this article]

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Informed choice in genetic screening for thalassaemia during pregnancy: audit from a national confidential inquiry: Bernadette Modell, Rodney Harris, Beverley Lane, Maren Khan, Matthew Darlison, Mary Petrou, John Old, Mark Layton, and Lysandros Varnavides
BMJ 2000 320: 337-341. [Abstract] [Full Text] [PDF]