Sickle Cell Anemia

sickle cell anemia
sickle cell anemia
IN THIS ARTICLE:

What is Sickle Cell Anemia?

Sickle cell anemia is an inherited disorder of the hemoglobin characterized by an abnormality in the shape which should be elliptical rather than sickle. Normal red blood cells are flexible while in the case of the disorder, the red blood cells assume stiffness and a sickle shape similar to the farmer’s tool where the name of the disorder was coined.

Sickle cell anemia is an autosomal recessive condition which can be passed on to offspring by both parents carrying the sickle cell genes. There is no sexual predilection for sickle cell as this disorder is not linked with the X chromosome. This inherited disorder originated in Africa where its prevalence is high and incidence has also been reported in Middle East and Mediterranean although less in frequency. Greece, Sicily and Southern Turkey are also included while these areas with incidence of sickle cells are also areas where malaria is endemic.

Clinical manifestations of sickle cell usually emerge during second half of first year of life while the disorder is evident on the 10th week of life. After 10 years of age the severity of pain usually felt decreases but risk for complications further increases. The disease of sickle cell anemia however, is life-long that careful medical monitoring is required. Prognosis becomes better and improved with continuous monitoring and therapy. Life expectancy is short with males up to 42 years and females of up to 48 years although modern approaches in managing the disease have increased the life expectancy of patients making them live for 50 years or more.

Symptoms

The manifestation of sickle cell disease usually begins on the 4th month to first year of life of an individual. Symptoms are in direct relation to the abnormally shaped red blood cells resulting from the blockage in the flow of the blood circulating around the body tissues. Impairment in the circulation leads to inadequacy in the oxygen supply necessary for the body tissue survival which later on results to damage in the tissues. The intermittent episodes of predicament experienced by patient have varying degrees and frequency.

The general symptoms of sickle cell anemia include:

Fatigue is the result of anemia that occurs when there is an insufficiency in the supply of red blood cells. Lack of oxygen supply directly resulted from insufficiency in red blood cells while oxygen is needed for proper body function and energy restoration. The relation of anemia condition brought the consequence of fatigue to patient suffering from sickle cell anemia.

Pain in periodic episodes or aptly called crises is the key symptom of sickle cell anemia. Pain is the result of misshapen red blood cells from blocking the normal blood flow in the tiny blood vessels within the abdomen, joints and chest of the patient. The pain crises are in varying frequency or degrees that may last for few hours to a few weeks. The pain felt can be extreme that hospital treatment may be required to help to relieve the pain.

Dactylitis is the condition of hand and foot swelling. The inflammation or swelling of hand and foot is related to insufficiency in the blood flow as a result of blockage from the sickle cell.

Infections are frequent to occur resulting from damaged organs that aids the body in warding off infection. Patients of sickle cell anemia are at high risk for suffering from infections.

Eye problem is among the feature of sickle cell anemia in relation to altered blood flow resulting to insufficiency in oxygen supply within the tiny blood vessels of the eyes.

Jaundice is often seen in children and teenagers suffering from this blood disorder as a result of breakdown of red blood cells at high rate.

Growth delay is evident in children resulting from oxygen and nutrient deprivation necessary for growth development including the puberty onset of the children afflicted with this sickle cell.

Aseptic necrosis is highly possible to patient as alteration in blood flow is equivalent to insufficiency in oxygen supply and is enough to cause body tissue necrosis.

Causes

Sickle cell anemia is the result of gene mutation in hemoglobin. The mutation causes the red blood cells, which is necessary for transporting and distributing oxygen to parts of the body including the vital organs, to become rigid and misshapen that the crescent shape will subsequently end in clumping of the red blood cells inhibiting the normal flow of the blood.

This gene mutation in hemoglobin can be passed on by parents to their offspring. The inherited abnormality was referred as disease due to pathological condition it brings to the afflicted individual which can either be fatal or brings in severe and serious medical complications. It takes both parents to pass on the mutated gene before an offspring can get affected while a single defective gene results to sickle cell trait. Sickle cell trait offspring may not have the symptoms of the disease but they are termed carriers in which the defective hemoglobin gene can be passed on to the next generation.

Treatment

The goal of treatment in sickle cell anemia is control and relief of pain while preventing medical complications. While treatment is geared towards managing and controlling symptoms and complications, inhibiting red blood cells from clumping is also another goal for treating the disease.

Bone marrow transplant is the potential cure for sickle cell but the dilemma however is in difficulty in finding matching donor and the risk associated with the procedure including potential risk for mortality.

Antibiotics are spontaneously given from 2 months of age until 5 years of age to prevent infections which can be life-threatening to infants. The medical regimen is also prescribed at higher dosage to adults to ward off infections.

Pain relievers are prescribed or can be bought over the counter to help patient in pain relief depending on the severity and frequency of pain crises. Strong dosage of pain reliever may be given for severe pain.

Blood transfusion aids in increasing the red blood cells while relieving the anemia. Red blood cells from donors are given to patients intravenously.

Sickle Cell Anemia Pictures

Picture collection of the disorder Sickle Cell Anemia…

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