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Full Review Article 2838 words

Full Review Article 2838 words

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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

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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

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

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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