Compromising for carrier detection of beta thalassemia based on measurement of HbA2 levels in unusual cases

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• 作者：Stacy Colaco ; Roshan Colah ; K. Ghosh ; Anita Nadkarni
• 关键词：¦Â Thalassemia ; ¦Ä Thalassemia ; Silent gene ; India
• 刊名：Clinica Chimica Acta
• 出版年：2012
• 出版时间：9 October, 2012
• 年：2012
• 卷：413
• 期：19-20
• 页码：1705-1707
• 全文大小：305 K

文摘

<h4 class=""h4"">Backgroundh4>An increased HbA2 level is the hallmark for identification of ¦Â thalassemia carriers. However, in some carriers the level of HbA2 is not typically elevated creating difficulties in making a diagnosis.<h4 class=""h4"">Methodsh4>

We describe a family having an affected child referred to us for confirmation of diagnosis of ¦Â thalassemia.<h4 class=""h4"">Resultsh4>

The father has a classical ¦Â thalassemia trait and the mother showed typical reduced red cell indices with a high RBC count but the HbA2 level was normal (2.4 % ). On molecular analysis she was a heterozygous carrier having IVS1 nt 5 (G ¡ú C) ¦Â thalassemia mutation. Further analysis of ¦Ä globin gene showed that the reduction in HbA2 was due to the presence of the ¦Ä mutation HbA2 Pelendri [CD 141(Leu ¡ú Pro, CTG ¡ú CCG)].<h4 class=""h4"">Conclusionsh4>

The diagnosis of a ¦Â thalassemia carrier could have been compromised, and states the importance of comprehensive molecular analysis for accurate diagnosis in couples where one partner has ¦Â thalassemia trait.