title: Interaction of - α 3.7, ß Thalassemia Mutation IVS 1-5 and HbD Punjab in a Family: A Case Report.
abstract: Hemoglobin D exist in four form; HbD trait, HbD-thalassemia, HbD sickle cell and HbD homozygous. HbD trait and HbD homozygous generally asymptomatic condition but when HbD co-inherit with thalassemia and sickle cell anemia, produces clinically significant conditions like chronic hemolytic anemia. Here we present a case of HbD Punjab with α 3.7 kb deletion and IVS-1-5 β-thalassemia across a family. Diagnosis of HbD patient was performed by high performance liquid chromatography and complete blood count was measured by automated cell analyzer. Molecular study for common alpha deletions done by Gap-PCR while beta thalassemia mutation identified by ARMS-PCR. Case was clinically significant due to the inheritance of HbD/β(+)thalassemia genotype. Thus observed case behaved like thalassemia intermedia due to co-existence of α 3.7 deletions with IVS 1-5 β-thalassemia mutation in HbD Punjab patient.
authors.affiliation: Department of Haematology, All India Institute of Medical Sciences, I.R.C.H. Building (1st floor), Ansari Nagar, New Delhi, 110 029 India.
authors.forename: S
authors.initials: S
authors.lastname: Pandey
authors.affiliation: Department of Haematology, All India Institute of Medical Sciences, I.R.C.H. Building (1st floor), Ansari Nagar, New Delhi, 110 029 India.
authors.forename: Ravi
authors.initials: R
authors.lastname: Ranjan
authors.affiliation: Department of Environmental Biology, APS University, Rewa, India.
authors.forename: R M
authors.initials: RM
authors.lastname: Mishra
authors.affiliation: Department of Haematology, All India Institute of Medical Sciences, I.R.C.H. Building (1st floor), Ansari Nagar, New Delhi, 110 029 India.
authors.forename: Sw
authors.initials: S
authors.lastname: Pandey
authors.affiliation: Department of Haematology, All India Institute of Medical Sciences, I.R.C.H. Building (1st floor), Ansari Nagar, New Delhi, 110 029 India.
authors.forename: R
authors.initials: R
authors.lastname: Saxena
keywords: ARMS–PCR; GAP-PCR; HPLC; HbD Punjab; IVS 1-5