Year : 2007 | Volume
: 13 | Issue : 1 | Page : 21--25
A monozygotic twin pair with β-thalassemia carrier status in a Dudh Kharia tribal family of Orissa
Division of Human Genetics, Regional Medical Research Centre (ICMR) Chandrasekharpur, Bhubaneswar - 751 023, Orissa, India
Background: The β -thalassemia syndrome is a genetically inherited commonly encountered hematological disorder in the state of Orissa. It causes high degree of morbidity, mortality and fetal wastage in the poor vulnerable people.
Aims and Objectives: There is an equal probability (50% chance) in every singleton pregnancy that a carrier parent of β -thalassemia major would either bear normal or carrier offspring, but not two offspring with carrier of β -thalassemia major genotype together. For the first time, a carrier parent of β -thalassemia major gene has born progeny (three daughters and a twin male offspring) with a carrier status of β -thalassemia major in Dudh Kharia tribal family studied from Sundargarh district of Orissa.
Materials and Methods: We screened randomly selected population of Dudh Kharia tribe from Sundargarh district of Orissa for hemoglobinopathies to assess the extent of the problem, design possible interventions and provide genetic counseling to them. A family with twin children was identified during screening in Lata Gaon in Bargaon block of Sundargarh district of Orissa for the above-mentioned study. Background information for this family such as name, age, sex, tribe, native place, reproductive history, family pedigree and clinical signs and symptoms were also recorded. Standardized genetic and hematological procedures and techniques were followed for analysis.
Results: Laboratory investigations for alkaline electrophoresis of blood lysate on cellulose acetate membrane showed raised hemoglobin A 2 level in mother (Hb A 2 = 5.3%), in three daughters (Hb A 2 =6.5, 5.9, 5.5% in chronological and birth order), in two twin sons (Hb A 2 =5.9% and 6.0%) and normal (Hb A 2 = 3.3%) for father. Hence, all the children i.e., three daughters and two twin sons, including the mother were β -thalassemia carriers. Since all the hematological parameters i.e., red cell indices, G-6-PD enzyme activity, ABO and Rhesus blood groups and identical β -thalassemia (trait) genotypes with identical clinical manifestations and hematological profile of the twin sons under similar environmental conditions, hence they were labeled as identical monozygotic twins.
Conclusions: It is a rare occasion when a single pregnancy carries either one or two abnormal genotypes at a time in a womb in human beings. Monozygotic twins are genetically alike and provide appraisal of the expression of identical genotype under the different environmental conditions.
R S Balgir
Division of Human Genetics, Regional Medical Research Center (ICMR), Opposite Kalinga Hospital, Chandrasekharpur, Bhubaneswar - 751 023, Orissa
|How to cite this article:|
Balgir R S. A monozygotic twin pair with β-thalassemia carrier status in a Dudh Kharia tribal family of Orissa.Indian J Hum Genet 2007;13:21-25
|How to cite this URL:|
Balgir R S. A monozygotic twin pair with β-thalassemia carrier status in a Dudh Kharia tribal family of Orissa. Indian J Hum Genet [serial online] 2007 [cited 2013 Jun 19 ];13:21-25
Available from: http://www.ijhg.com/article.asp?issn=0971-6866;year=2007;volume=13;issue=1;spage=21;epage=25;aulast=Balgir;type=0