Coinheritance of Hb D-Punjab and β-Thalassemia: Diagnosis and Implications in Prenatal Diagnosis. (April 2015)

• Record Type: Journal Article
• Authors: Das, Sheila; Mashon, Ranjeet S.
• Is Part Of: Hemoglobin. Volume 39:Number 2(2015)
• Page Start: 138
• Page End: 140
• Publication Date: 2015-04
• Subjects: Hemoglobinopathy -- Periodicals; Hemoglobin -- Periodicals; Hematology -- Periodicals; Thalassemia -- Periodicals; Blood -- Diseases -- Periodicals; 612.1111
• DOI: 10.3109/03630269.2015.1004335
• Languages: English
• ISSNs: 0363-0269

Abstract

<abstract> <title>Abstract</title> <p>Hb D-Punjab (<italic>HBB</italic>: c.364G&gt;C) is an abnormal hemoglobin (Hb) associated with genetic risk in association with Hb S (<italic>HBB</italic>: c.20A&gt;T). In addition, misdiagnosing homozygosis for hemizygosis may have implication for genetic risk assessment. We present the diagnostic utility of high performance liquid chromatography (HPLC) in differential diagnosis between the Hb D-Punjab homozygote and the Hb D-Punjab/β-thalassemia (β-thal) genotype. The Hb A₂ level measurement may not be a reliable parameter to differentiate between the two conditions. In a screening program for risk prediction, the genotype should be confirmed by family study and/or molecular analysis. Misdiagnosis can have potentially adverse implications in a prenatal diagnosis (PND) program, particularly in areas where consanguinity is common and this Hb D-Punjab variant occurs.</p> </abstract>