Sickle Cell

Sickle Cell

Introduction

The diseases of sickle cell are a chronic, inborn state putting an effect on the blood and a number of appendages in the human body. It impacts the red cell of blood, i.e. RBCs, leading to the incidents of sickling that fabricate the phases of ache and further warning signs. Sickle cell disease is abnormal hemoglobin (red blood cell component that can carry oxygen and carbon dioxide in the blood).

Hemoglobin normally present in red blood cells called hemoglobin "A". Patients with sickle cell anemia, the hemoglobin is partly or wholly replaced by different hemoglobin, hemoglobin S, hemoglobin, also called sickle cell disease. The sickle cell hemoglobin is capable of distorting the red blood cell that contains the cell to give an appearance in sickle cell. Thus, the red blood cell deformed and loses its ability to flow in small blood vessels, stops, impedes the delivery of oxygen and is destroyed early.

The dominant symptom of sickle cell disease is pain! This pain occurs when red blood cells get stuck with and distorted in the vessels and bones. She is so unbearable that patients are forced to make an emergency at the hospital, where they receive morphine (analgesic alone can mitigate the severe pain of the disease). At present, there is no cure sickle cell disease and the only treatment available only serve to mitigate or prevent the excruciating pain of this disease.

Discussion

It is a genetic disorder characterized by impaired hemoglobin protein carrying oxygen in the blood. Sickle cell disease is determined by the combination of two abnormal allele's beta globin gene, isolated in 1978. It is an autosomal recessive means that both parents must give each child a defective allele (called S) so that the disease occurs in the presence of a duplicate copy (S / S). When the mutated gene exists in a single copy, it offers instead a protection against malaria. This is probably why it has survived in the genetic evolution of our species. A high prevalence of mutated genes and is observed in areas malaria is or has been: Central Africa and West (15-25% of carriers in the population), DOM of America (10-12%) and Mediterranean (1-15%). In Europe, an estimated one in 250 individuals is a healthy carrier of the gene. In metropolitan France, Ile-de-France region is the most affected, with about 1 700 births.

Abnormal red blood cells: sickle cell disease. The origin of sickle cell anemia comes from the modification of a single amino acid, which causes loss of elasticity or membrane produces hemolysis.

The clinical manifestations of sickle cell disease are essentially of three types: haemolytic anemia (abnormal red blood cells are destroyed), severe bacterial infections (including pneumonia in children), vaso-occlusive ischemic due to conflicts between small vessels and red blood cells too little deformed, causing clots. Complications of varying severity may occur: growth retardation and weight, delayed puberty, retinal abnormalities, pulmonary hypertension, stroke. The disease does not occur before the age of 3 months and its symptoms are very different from one ...