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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
Silvana FF, Tatiana A, Antônio P, Marilda GA, Ney BS. Hemoglobin A2 values in sickle cell
disease patients quantified by high performance liquid chromatography and the influence of
alpha thalassemia. Rev bras hematol hemoter. 2 0 1 5; 37(5):296301

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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 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
2
.
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.

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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 Silvana FF, Tatiana A, Antônio P, Marilda GA, Ney BS. Hemoglobin A2 values in sickle cell disease patients quantified by high performance liquid chromatography and the influence of alpha thalassemia. Rev bras hematol hemoter. 2 0 1 5; 37(5):296–301 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 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 pecu ...
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