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Clinica chimica acta; international journal of clinical chemistry

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


PMID 22659060

Abstract

An increased HbA2 level is the hallmark for identification of β thalassemia carriers. However, in some carriers the level of HbA2 is not typically elevated creating difficulties in making a diagnosis. We describe a family having an affected child referred to us for confirmation of diagnosis of β thalassemia. The father has a classical β 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→C) β thalassemia mutation. Further analysis of δ globin gene showed that the reduction in HbA2 was due to the presence of the δ mutation HbA2 Pelendri [CD 141(Leu→Pro, CTG→CCG)]. The diagnosis of a β thalassemia carrier could have been compromised, and states the importance of comprehensive molecular analysis for accurate diagnosis in couples where one partner has β thalassemia trait.

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H0266 Hemoglobin A2, Ferrous Stabilized human, lyophilized powder