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Introduction of Review Article

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Review of Original Article: Hemoglobin A2 values in sickle cell disease
patients quantified by high performance liquid chromatography and the
influence of alpha thalassemia
Introduction
The three principal categories of hereditary disorders are Single gene disorders, multi-factorial
disorders as well as chromosomal disorders. The single gene disorders imply a mutation in a
specific single gene which results in a loss of function. Multi factorial conditions have genetic as
well as environmental factors which causes a derangement of function. In the last chromosomal
disorders, there is a chromosomal imbalance and associated modification in the gene dosage
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Sickle cell anemia is a chronic, lifetime hereditary disorder which manifests in the early age,
altering the anatomy of the red blood cells. Normally, a single DNA mutation in the beta globin
gene results in substitution of glutamic acid to valine, altering the structure of the hemoglobin,
HbA, present normally to abnormally structured hemoglobin called sickle hemoglobin HbS. In
situations of de-oxygenation or dehydration, this abnormal HbS gets polymerized in the red
blood cells, resulting in intra-cellular tactoids which lead to deformation the erythrocytes into the
peculiar form of a sickle leading to their obstruction at the micro vascular level, undue stickiness
of the white blood cells and platelets, inflammatory and hyper-coagulatory changes. People
having sickle cell anemia are predisposed to a variety of complications including greater
predisposition to infections manifesting as recurrent infections, persistent anemia of the
hemolytic variety; episodes of thrombosis and end organ damage at multiple organ system level
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Thalassemia is a class of hereditary erythrocyte abnormalities, or can be defined as a set of
recessive hereditary derangements marked by the presence of a hemoglobin phenotype termed as
hemoglobin A. The article Hemoglobin A2 values in sickle cell disease patients quantified by
high performance liquid chromatography and the influence of alpha thalassemia is an
investigation into the quantification of Hb A2’s importance for the differential diagnosis between
sickle cell anemia (Hb SS) and Hb S/0-thalassemia with the objective of determining Hb A2
levels as quantified by high performance liquid chromatography in subjects having sickle cell
anemia (Hb SS) and with the sickle cell hemoglobinopathy, with or without con-comitant alpha
thalassemia. A retrospective study on 242 children having ages ranging from 2 to six years was
done who had a diagnosis of Hb SS or Hb SC. Hemoglobin was determined employing high
performance liquid chromatography & alpha thalassemia [3.7 kb deletion (−3.7)] was found
using the polymerase chain reaction (PCR). Subjects were categorized as homozygous
(−3.7/−3.7), heterozygous (−3.7/), or homozygous wild-type. An analysis of variance was used
to compare the average Hb A2 values amongst the alpha thalassemia categories. The study
concluded that Hb A2 levels were raised in subjects with Hb S or Hb C, and were impacted by
the alpha thalassemia genotypes in a direct fashion. The article reinforces the significance of
multi-center researches while establishing the patterns, the requirement of personal scrutiny of
individual cases in order to arrive at a differential diagnosis among the various sickle cell
presentations, specifically in areas carrying a greater prevalence of the different forms of
hemoglobinopathy, and the utilization of research in molecular biology to clear any ambiguities
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Review of Original Article: Hemoglobin A2 values in sickle cell disease patients quantified by high performance liquid chromatography and the influence of alpha thalassemia Introduction The three principal categories of hereditary disorders are Single gene disorders, multi-factorial disorders as well as chromosomal disorders. The single gene disorders imply a mutation in a specific single gene which results in a loss of function. Multi factorial conditions have genetic as well as environmental factors which causes a derangement of function. In the last chromosomal disorders, there is a chromosomal imbalance and associated modification in the gene dosage 1. Sickle cell anemia is a chronic, lifetime hereditary disorder which manifests in the early age, altering the anatomy of the red blood cells. Normally, a single DNA mutation in the beta globin gene results in substitution of glutamic ac ...
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