Evaluation of the genetic basis of phenotypic heterogeneity in north Indian patients with thalassemia major

European Journal of Haematology
Nidhi SharmaR K Marwaha

Abstract

To assess the molecular basis of phenotypic heterogeneity in north Indian patients with thalassemia major (TM). To determine the clinical severity, 130 patients of TM were studied for the age of first presentation and frequency of blood transfusion. The type of beta mutations, Xmn-1(G)gamma polymorphism and G6PD Mediterranean mutation was characterized. Analysis of the phenotypic presentation and the genotype was performed. Majority (83.8%) presented before 1 year of age (mean 8.8 months). The caste distribution showed 41.6% were Aroras and 32.3% were migrants from Pakistan. IVS1-5(G-->C) was commonest (32.7%) and the common five Indian mutations comprised of 88.4% of alleles. The mean age of presentation with IVS1-5(G-->C), Fr 8/9, (+G) 619-bp del and IVS1-1(G-->T) homozygosity was 4.3, 6, 3.4 and 9.1 months respectively. Xmn-1(G)gamma status showed -/- in 66.9%, +/- in 26.1% and +/+ in 6.9% patients. Xmn-1(G)gamma-/- presented before 1 year of age. The mean age of presentation with +/+ was 18.3 months. Six hemizygous boys and one heterozygous girl with G6PD Mediterranean were found (prevalence 5.3%). Eight patients could be reclassified as thalassemia intermedia on follow up. This study showed that majority of TM in north Ind...Continue Reading

References

Oct 30, 1990·Lancet·P ParikhH H Kazazian
Jun 1, 1991·British Journal of Haematology·N Y VarawallaD J Weatherall
May 1, 1993·British Journal of Haematology·J E CraigS L Thein
Jul 1, 1997·Human Genetics·I C VermaP K Jain
Aug 7, 1999·Human Heredity·A BandyopadhyayU B Dasgupta
Sep 18, 2001·American Journal of Hematology·A NadkarniD Mohanty
Aug 19, 2004·Blood Cells, Molecules & Diseases·Roshan ColahDipika Mohanty
Apr 25, 2007·The Journal of Pediatrics·Arun SainiA K Dutta

❮ Previous
Next ❯

Citations

Jun 22, 2011·Prenatal Diagnosis·E Miri-MoghaddamA Khazaei Feizabad
Apr 24, 2014·International Journal of Laboratory Hematology·P SharmaG Garewal
Dec 20, 2014·Hemoglobin·Rakesh KumarPurnima Kishor
May 16, 2015·Blood Cells, Molecules & Diseases·Rachana NagarRajiva Raman
Aug 9, 2012·Annals of Saudi Medicine·Azza A G TantawyWessam Emam
Sep 27, 2019·Human Genomics·UNKNOWN GUaRDIAN ConsortiumVinod Scaria
Jun 9, 2020·Hemoglobin·Fatima-Zahra Alaoui-IsmailiMohcine Bennani-Mechita
Feb 8, 2013·Journal of Pediatric Hematology/oncology·Saqib H AnsariMoinuddin Moinuddin

❮ Previous
Next ❯

Related Concepts

Related Feeds

Anemia

Anemia develops when your blood lacks enough healthy red blood cells. Anemia of inflammation (AI, also called anemia of chronic disease) is a common, typically normocytic, normochromic anemia that is caused by an underlying inflammatory disease. Here is the latest research on anemia.