-Thalassemia is one of the major genetic disorders which can be transmitted from parents to their children. In India, there is a concept of consanguineous marriage apart from having various castes and sub-castes in all the states. There are many ways of screening -Thalassemia. Complete hemogram like MCV, MCH, Hb values and the NESTROFT. The sample which shows positive for NESTROFT can be chec...

AIM: To assess the validity and discrimination power of haemogram parameters and RBC indices in diagnosing βTT in microcytic, hypochromic anaemia. MATERIAL AND METHODS: A prospective study was conducted on the microcytic, hypochromic anaemic OPD and indoor admitted patients in Umaid Hospital, Jodhpur measured with electronic cell counter (Sysmex K800). HbA2 was calculated on the cohort by the H...

In this study, we used cloning and sequence analysis to define the molecular defect in two -thaIassemia genes. one associated with reduced output of #{244}-globin chains ( +th9I) from a Sardinian and the other with a complete supression of #{246}-chain production from the affected locus ( “tls’) from a Southern Italian. Sequence analysis of the 15+th.I gene showed a GT substitution at the first...

In this study, a new alpha globin gene mutation on the α2-globin gene is reported. This mutation resulted in a Lys > stop codon substitution at position 127 which was detected in four individuals (three males and one female). DNA sequencing revealed this mutation in unrelated persons in Khuzestan province, Southwestern Iran of Lor ethnicity. This mutation caused no severe hematological abnormal...

OBJECTIVE To devise a strategy for prevention of beta thalassemia in newborns through reliable screening of indexed families. METHODS The cross-sectional study was conducted over six months in 2011 and comprised blood samples collected from subjects belonging to different ethnic groups from families of beta thalassemia major children registered with the Abbottonian Medical Association Blood C...

While the highly consistent gene order and axial colinear patterns of expression seem to be a feature of vertebrate hox gene clusters, this pattern may be less well conserved across the rest of the bilaterians. We report the first deuterostome instance of an intact hox cluster with a unique gene order where the paralog groups are not expressed in a sequential manner. The finished sequence from ...

The human hemochromatosis protein HFE is encoded by the gene and participates in iron regulation. aim of this study was to detect most frequent mutations a control population β-thalassemia trait (BTT) carriers, their relationship with metabolism. Total blood count, hemoglobin electrophoresis at alkaline pH, HbA2 quantification, (Fe), total Fe binding capacity ferritin were assayed. analyzed rea...

OBJECTIVES The term beta-thalassemia includes all those hereditary disturbances of the hemoglobin (Hb), transferred trough a recessive autosomal mechanism, due to a reduced or else defective synthesis of beta globin sequences. The aim of this paper is to highlight as sometimes the only biochemical diagnosis is not exhaustive and a molecular diagnostic widening is necessary to detect the genetic...