title: Coinheritance of Hb D-Punjab and β-thalassemia: diagnosis and implications in prenatal diagnosis.
abstract: Hb D-Punjab (HBB: c.364G>C) is an abnormal hemoglobin (Hb) associated with genetic risk in association with Hb S (HBB: c.20A>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.
authors: Department of Pathology, Christian Medical College , Ludhiana, Punjab , India and.
authors: Sheila
authors: S
authors: Das
authors: Ranjeet S
authors: RS
authors: Mashon
mesh_terms: D000328:Adult; D002675:Child, Preschool; D004909:Erythrocyte Indices; D005260:Female; D005838:Genotype; D006455:Hemoglobins, Abnormal / Q000235:genetics*; D006801:Humans; D008297:Male; D009154:Mutation; D011247:Pregnancy; D011296:Prenatal Diagnosis; D055815:Young Adult; D055544:beta-Globins / Q000235:genetics*; D017086:beta-Thalassemia / Q000175:diagnosis* / Q000235:genetics*
chemical_list: D006455:Hemoglobins, Abnormal; D055544:beta-Globins; C026237:hemoglobin D Punjab
keywords: Hb D-Punjab; high performance liquid chromatography (HPLC); molecular diagnosis; prenatal diagnosis (PND); β-Thalassemia (β-thal)