In the African American community, sickle cell disease is a major health problem. Sickle cell disease also affects the Mediterranean, Middle Eastern, and Asian Indians ancestry and shows growth of Latin American populations, especially Caribbean, Central American and South American ancestry. In the United States, one out of 400 births will suffer from this disease. The most common type of sickle cell disease is sickle cell anemia.
Definition and explanation of sickle cell disease
Sickle cell disease is a group of hereditary blood diseases centered on erythrocytes and is characterized by aberrant functioning and potentially associated with small arm vein mass, chronic anemia, painful events, and tissue and organ damage It causes complications. These blood diseases include sickle cell anemia, Mediterranean blood disease, sickle cell syndrome, and insufficient concentration of hemoglobinosis where sickle cell hemoglobin sickles erythrocytes in association with other abnormal hemoglobin included.
All types of sickle cell disease are caused by hereditary changes in hemoglobin fraction of erythrocytes. Hemoglobin is an oxygen transporting protein inside erythrocytes. Normal red blood cells are elliptical and flexible. Sickle cell disease erythrocytes tend to shape themselves to become a bar-like structure resembling a curved blade of a sickle. Therefore, the term sickle cell. Sickle cells have a shorter life span than normal red blood cells. These result in chronic anemia and a reduction in oxygen to the tissues of the body. Sickle cells are less flexible and more sticky than normal red blood cells. These are problematic because they are trapped in small blood vessels and impede blood flow to the body's tissues. This compromise in the delivery of oxygen to the tissue results in pain and potential damage to the relevant tissues and organs.
The carrier of the sickle cell gene is said to have a sickle cell trait. In most cases, the sickle cell trait does not cause health problems. Indeed, the sickle cell trait can be beneficial as it provides protection against malaria, a disease caused by mosquito biting bloodborne parasites. It is estimated that one in 12 African Americans has a sickle-like erythrocyte trait.
Cause of sickle cell disease!
The red blood cell hemoglobin molecule is composed of three components: heme, alpha or alpha-like globin, and beta or beta-like globin. Sickle cells contain genetic changes in the beta globin component of the hemoglobin molecule. This is caused by a change in the genetic code on chromosome 11. A small change in a single DNA nucleotide results in the insertion of a different amino acid in the beta globin protein of the hemoglobin molecule, resulting in the unique properties of the sickle cell. For simplicity, this altered gene is called the "sickle cell gene" and the normal gene is called the "normal red blood cell gene".
For most people, there are two copies of "normal red blood cell genes" to produce normal beta globin, resulting in typical red blood cells. Individuals with sickle cell traits have one "normal red blood cell gene" and one "sickle cell gene" so as to produce approximately equal proportions of both normal red blood cells and sickle erythrocytes. Because of these, they usually do not experience serious health problems as a result of having a sickle cell trait. Those who have sickle cell anemia have two "sickle cell genes".
Genetics plays an important role in both disease, symptoms, and family planning. If both members of the couple have a sickle cell trait, there is a 25% chance in each pregnancy because the baby inherits the two sickle cell genes and the resulting child has sickle cell anemia. Correspondingly, the probability that a baby has a sickle-like red blood cell trait is 50% and the probability that a red blood cell gene has normal red blood cells is 25%. If both members of the couple have sickle cell anemia, the baby has 100% of sickle cell anemia. If one member of this couple has sickle cell anemia and the other member has "normal red blood cell gene", the resulting child will have 100% sickle cell trait. Finally, if one member of this couple has a diseased cellular trait and the other member has a "normal red blood cell gene", the resulting child has a 50% chance of having normal red blood cell hemoglobin , Or the possibility of having sickle erythrocytes is 50% trait.
Need for oxygen!
Oxygen is necessary for life and is the optimal function of all cells. Red blood cells carry oxygen from the lungs throughout your body to tissues. After binding oxygen to the lungs, it is the hemoglobin molecule that releases oxygen to the tissue for proper cell respiration. However, when oxygen is released by sickle cell hemoglobin, red blood cells can change their normal oval shape to a sickle-like shape of sickle erythrocytes. Hypoxia can trigger this change. The study also seems to indicate that cold and dehydration are factors that cause this change.
Normal erythrocytes can survive for about 120 days and sickle erythrocytes typically persist for 10 to 12 days. This is an important factor because hemoglobin causing red blood cells and anemia is chronically shortened. This causes oxygen deficiency which may cause the shape change of erythrocytes to be sickle. This tight sickle-like shape ensures that sickle cells do not fit through small vessels. In addition, changing chemistry changes to increase cells. "Stickiness". Therefore, sickle cells are present on the inner surface of small blood vessels and other blood cells and tend to obstruct these blood vessels. These obstructions can prevent oxygen-free blood from reaching the tissue area and damage the pain and organs and tissues if oxygen is not kept long enough.
Common symptoms are as follows.
o Hematuria, pollakiuria
o Bone and / or abdominal pain, chest pain
Late growth and adolescence
o Excessive thirst
o Fatigue, shortness of breath, rapid heart rate
Increased susceptibility to infection, fever
o Medium to intense changing pain
o Paris, yellow eyes and / or skin, jaundice
o Bad sight or blindness
o Normally, youth and adult lower limb ulcers
The severity of the symptoms varies widely and can not only assume genetic inheritance. People with sickle cell disease have problems with health and life-threatening problems in infancy, and others have mild symptoms throughout their lives. Other people experience varying degrees of health problems with age. Certain sickle cell lesions tend to be less severe on average than other types of sickle cell disease.
Organs and body systems affected by sickle cell disease
Various organs and body systems can be affected by sickle cell disease. As you can see from this list, sickle cell disease has extensive effects on the body. In short, oxygen and tissues that require adequate blood flow can be at risk.
Acute thoracic syndrome - acute thoracic syndrome or ACS is the leading cause of death for patients with sickle cell disease. It is done in the lungs, rapid diagnosis and treatment is very important. ACS can occur at any age. Symptoms are similar to pneumonia, but the damage is clear.
o Anemia - As we learned early, the life span of sickle cells is 10 - 12 days, resulting in deficiency of erythrocytes in the bloodstream. Because it is hemoglobin of erythrocytes that carries oxygen, this deficiency has a reduction in oxygen to the tissues. Common symptoms of anemia include fatigue, pallor, shortness of breath. Heart rate increases to circulate more blood to compensate for the lack of oxygen to the tissue.
Delayed growth - Because of the short life span of sickle cells, the energy demand of the bone marrow that produces a lot of red blood cells competes with the demands of growing bodies. Children suffering from sickle cell anemia may be overdue in growth and may reach adolescence at a later age. However, in early adulthood, although it keeps up with growth and height, it may stay below the average weight.
Infectious diseases and spleen - Children under 3 years of age who suffer from sickle cell disease tend to cause particularly fatal bacterial infections against Streptococcus pneumoniae. Unfortunately, 15% of these types of cases lead to death. Your spleen helps fight bacterial infections, so it is particularly affected by sickle cells. It is not uncommon to see the loss of spleen function from a young age of patients with sickle cell anemia.
Jaundice and gallstone-jaundice is indicated by a yellow tone to the skin and eyes due to an increase in the level of bilirubin, the final product of hemoglobin degradation when red blood cells are broken. Bilirubin is removed from the bloodstream by the liver and as the level rises the possibility of gallstones may increase.
o Complications - The blood supply to the connective tissue, particularly in the hip and shoulder joints, is blocked by sickle cells and can cause bone damage and healing failure. This complication affects the individual's physical abilities and can cause substantial and chronic pain.
o Kidney disease - the kidney is particularly susceptible to damage from sickle cells. Adults with sickle cell disease often experience kidney impairment and may progress to renal failure.
o Painful event - this is a prominent symptom of sickle cell disease. Frequency and duration vary greatly from individual to individual and throughout the life of the individual. These painful events are also the most common cause of hospitalization. Significant symptoms appear when small blood vessels are occluded by sickle erythrocytes and oxygen is prevented from reaching the tissue. Pain may affect any region of the body, but the most frequent parts are extremities, chest, abdomen, bone.
Pregnancy - Because men are in a condition characterized by permanent and painful erections, we must deal with this. The blood vessel was occluded by the sickle erythrocyte, and the blood was trapped in the tissue of the male organ. It is very painful and can damage this tissue and cause impotence.
o Retinopathy - blood vessels supporting tissues behind the eye are obstructed by sickle cells and can lead to a condition called retinopathy. Regular ophthalmology assessment and effective treatment will help people avoid permanent damage to vision.
o Stroke - This is one of the most serious complications of sickle cell disease and about 11% of individuals with this disease have a recognizable stroke by age 20 years. Typically, the stroke of patients with sickle cell disease is cerebrovascular obstruction by sickle erythrocytes. This leads to oxygen deficiency to the affected part of the brain. The results range from undetectable effects to delicate learning disabilities, from severe physical or cognitive disadvantages to threatening life.
Diagnosis and treatment
It is not possible to prevent the inheritance of sickle cell disease or sickle cell trait, but it can be predicted because screening is recommended. If symptoms appear, consult a doctor and make an accurate examination to determine if you have a sickle cell gene and what level of risk you have. For newborn babies, more than 40 states include sickle cell screening as part of a blood test battery. However, please do not assume that the test is completed. We must act actively all the time.
Hemoglobin trait screening is always a good choice for those with high-risk ethnic backgrounds, especially if you are considering having children. If you and your partner turn out to have sickle red blood cells or other hemoglobin hits, you will be undergoing genetic counseling to better understand the risk of sickle cell disease for offspring and various examination options It may be desirable.
Treatment options are to prevent some of the symptoms and complications of sickle cell disease. These treatment options include:
o Comprehensive medical access
o Appropriate nutrition
o Avoid pressure and infection
o Transfusion
Bone marrow transplantation
o Take the appropriate break
o Good hydration
o Hydroxyurea
o Pain Management
Proper vaccination
o Folate Supplement
o Support Group
o Surgery
o Use of prophylactic antibiotics
Regardless of any medical condition, I always want to collaborate with qualified medical experts and develop the most appropriate course of action for my situation.
There is a new study showing a direct correlation between nitric oxide deficiency in patients with sickle cell anemia and severity of symptoms. Please see our companion article "14 steps to help people with sickle cell disease!" This article explains the latest research and provides 14 proposals that can be used to help people with sickle cell disease.
