Congenital dyserythropoietic anemia is a blood disorder r that is inherited and it is also present at birth. Congenital dyserythropoietic anemia is just one of the many types of anemia, which are conditions that affect the red blood cells. When a person has anemia they have a shortage of RBC’s. Red blood cells are important in maintaining homeostasis in the body. The main functions of the red blood cells are to transport oxygenated blood to the tissues of the body. With that being said, when people suffer from anemia do not get the adequate amount of oxygen to the tissues of their body. The symptoms of anemia vary from person to person, some experience weakness, while other are more fatigued (www.ghr.nih.gov). Other symptoms include pale skin, chest pains and tachycardia or fast or irregular heart rate/ beat. There are three versions of congenital dyserythropoietic anemia, and they are classified by types, they all have different signs and symptoms and also have different genetic effects. CDA type I, ranges from severe to moderate. Most of the time, this type of anemia is diagnosed as a child or during adolescence. However, in some cases CDA type I may be detected even before birth during gestation. Individuals that have CDA type one often have Jaundice or yellowing of …show more content…
Most people that have this type of anemia do not suffer from the enlargement of the liver and spleen. They also do not suffer from the overloading or building up of iron like the other conditions. Instead, in adulthood the tissue in the retina seem to be affected. In most cases people develop visual impairments because of the retina being affected. To add, people who have CDA type III also may suffer from a disorder known as monoclonal gammopathy, a condition that can lead to cancer of the white blood cells. There are several other variants of this blood condition, but they are very rare and not much is known about
The type of anemia this patient has is Iron Deficiency Anemia. Iron Deficiency Anemia (IDA) has been revealed to be the greatest mutual foundation of anemia globally, and it is acknowledged that people with chronic kidney disease (CKD) progress to anemia as their kidney function deteriorates (Wittwer, 2013).
Individuals having the “weak D” phenotype (Du) have low levels of expression of the D antigen. This phenotype is the result of an amino acid substitution that affects the insertion of the protein into the RBC membrane. However, all epitopes are present, so these individuals are not in danger of antibody formation following transfusion with D-positive blood. In contrast, in persons having the “partial D” phenotype, a hybrid protein that lacks several epitopes is produced. Therefore, if those having the “partial-D” phenotype receive D-positive blood, they may produce an immune response to the missing epitope, causing a transfusion reaction.
Auto immune hemolytic anemia is a disorder where the body attacks itself. The body attacks and lysis its own red blood cells. The immune system recognizes the red blood cells as foreign invaders, targets them and destroys them. Red blood cells are either destroyed in the vessel as it circulates or when its circulates through the liver or spleen. Hemoglobin is released by the red blood cells and the liver is overworked as it tries to break it down. Oxygen is delivered to cells and tissue via hemoglobin and can cause symptoms such as lethargy, tachypnea, tachycardia, pale mucous membranes, and disorientation due to lack of oxygen. Vomiting and poor appetite can also be experienced symptoms. Auto immune hemolytic anemia is diagnosed with blood
Iron deficiency anemia, one of the most common types of anemia, is a blood disorder where
Infection is more severe in infants because the majority do not receive the preventive antibiotics initiating dead. Red blood cells provide oxygen and nutrients for the growth of the body, this affects healthy cells by slowing the growth of the body. Visions disorder is another symptom causing the damage of the blood vessels that go to the eyes dislocating the retina which can lead to blindness. In addition, sings patients can present during sickle cell anemia are painful swelling of hands and feet, Fatigue, and a yellowish discoloration of the skin (jaundice), or whites of the eyes (icterus). Another common factor affecting the body of a sickle cell anemia person is brain complications; this occurs when blood flow to the brain is blocked cells can die causing strokes. Some symptoms of a stroke can be the weakness of a lower or upper limb, trouble understanding, loss of balance and severe pain in the head. Mental health can be damaged with sickle cell anemia causing individuals to feel frustrated, sad or depressed. This can occur because people are not able to perform daily activities as others making them feel this
blood disorders, such as hemolytic anemia (the rupture or destruction of red blood cells that lead to a decreased amount of red blood cells in your circulation, which leads to fatigue and weakness)
There is also three other forms of hemochromatosis Juvenile, neonatal, and transfusion. “Juvenile hemochromatosis is one type of form which affects young adults ages 15 to 30.” Then there is “neonatal hemochromatosis, which is when iron builds up very quickly in an infants liver and can cause death.” The third is transfusion related hemochromatosis which is a result of “iron overload cause by to many blood transfusions.”
The skin of the people with the trait will be pale and become yellowish which is also known as jaundice. There will be also the whites of the eye. The effect of this trait to biliary tree is the formation of stones by stuck bilirubin in gallbladder. Sickle cell intrahepatic cholestasis may occur in renal due to inadequate oxygen supply to liver tissue because sickle red cell block the blood vessel to the liver tissues. The avascular or aseptic necrosis is the pathological change in the bone where lead to inadequate oxygen flow to the bones and result in damage of the bone. The people will have pain in walking and other movement involving joint
Anemia of chronic disease — The hallmarks of this condition are the presence of a low serum iron, low iron binding capacity (transferrin), and a normal to increased serum ferritin concentration. The causes are usually related to the presence of chronic infection, (eg, pulmonary tuberculosis), inflammation (eg, active rheumatoid arthritis), or malignancy (eg, stage IIIB Hodgkin lymphoma).
The clinical presentation of patients with aplastic anemia includes symptoms related to the decrease in bone marrow production of hematopoietic cells. Specific manifestations include pallor, headache, palpitations, dyspnea, fatigue, or ankle edema (Porth, 2015). Signs and symptoms of aplastic anemia may include nosebleeds and bleeding gums, frequent or prolonged infections, and pharyngeal ulcerations. Patients with aplastic anemia commonly present with symptoms of pallor, headache, palpitations, dyspnea, easy bruising and fatigue (Porth, 2015). Other symptoms include visual disturbance due to retinal hemorrhage, petechial rashes, SOB with exertion, dizziness (Porth, 2015). Patients with aplastic anemia also present with jaundice and evidence of clinical hepatitis (Porth, 2015). Obtaining work history, solvent exposure, as well as a family, environmental, and infectious disease history (Musser, 2006). The clinical presentation of
Anemia is a condition that affects one’s blood where there are not enough healthy red blood cells (RBCs). When there aren’t enough RBCs, the cells in the body will not get enough oxygen. This is the most common blood condition in the US that affects over 3 million Americans. Some forms of anemia are hereditary;
Anemia is a disorder of the blood. It occurs when your body does not produce enough erythrocytes or red blood cells (RBCs). Without the erythrocytes oxygen can not be adequately delivered to the tissues and organs throughout the body. This will cause you to become weak and tired. A person may also experience headaches, skin pallor, and faintness. Your body may attempt to compensate for these symptoms by speeding up the heart rate and respiratory rate. This is the body’s attempt to return oxygen levels to normal(Thibodeau and Patton, 2005).
Anemia is a condition that develops when a person has fewer blood cells, or hemoglobin than a normal person. Hemoglobin binds to oxygen, and is a main part of red blood cells. If a person’s hemoglobin is low, that means that the cells in the body are not getting enough oxygen. For example, one may feel exhausted because his or her organs are not getting what they need to function normally.
Iron-deficiency anemia is when you have a low amount of red blood cells or hemoglobin because you have too little iron in your body. Hemoglobin carries oxygen to parts of the body. Anemia can cause your body to not get enough oxygen. It may or may not cause symptoms.
Even though Hb analysis using either gel electrophoresis, HPLC or CE is unable to detect a-thalassaemia trait, the tests are useful for the diagnosis of the more severe forms which are Hb H disease (3 a genes deleted, genotype a-/--) and Hb Bart’s hydrops fetalis (4 a genes deleted, genotype --/--). Hb electrophoresis will show the fast H and Barts band. Analysis using either HPLC or CE is able to detect the Hb H and Hb Barts. As for non-deletional a-globin variant cases such as heterozygous Hb CS, the gel electrophoresis and HPLC method always miss to identify these cases due to instability of its mRNA8. CE method showed a better detection of heterozygous Hb CS cases9.