Numerous Sequelae That Can Occur as a Result of Hemoglobinopathy - Essay Example

Hemoglobinopathy Hemoglobinopathy refers to a range of genetically inherited disorders of red blood cells hemoglobin and includes sickle cell disease and thalassaemia. Sickle cell disease and thalassaemia are the two major and commonest forms of the genetically inheritance disorders. Sickle cell disease contains of a group of inherited genetic disorders, characterized by mutation of the genes causing abnormal hemoglobin to be produced, which causes the cell to form a crescent shape (sickle) allowing abnormal hemoglobin polymerization leading to a symptomatic disorder and can affect multiple organ systems. The rigid sickle erythrocytes lead to vascular occlusion, which result in retinal hypoxia, ischemia, neovascularization and fibrovascularization. Incase this series of events does not stabilize or reverse with recanalization of the occluded retinal vessel, the subsequent end stage results may be retinal infarction and or detachment. Most people with sickle cell disease are healthy at birth, and become symptomatic later in infancy or childhood, after fetal hemoglobin (HbF} levels increases. Thalassaemia is a genetic disorder which results from an imbalance in the two proteins chains that produce the hemoglobin molecule which function as oxygen carrying protein in red blood cells. Thalassaemia can lead to severe anemia and death if there is no ongoing treatment. In both disorders the production of hemoglobin is interfered with and can not do its biological work of carrying oxygen to the body. There two different types of thalassaemia namely, alpha and beta thalassaemia. Thalassaemia major refers to people who have inherited more than one copy of genes with genetic changes, while thalassaemia minor refers to people with either alpha or beta thalassaemia. This can be known if a person is a carrier by doing a blood test for thalassaemia. Traditionally, these disorders were confined to specific areas and populations mainly in the Mediterranean basin and middle and Far East incase of people suffering from beta thalassaemia, sub- Saharan Africa and Africa Americans incase of sickle cell anemia. Currently these diseases have expanded to global distribution because of the immigration of those populations to the western world. Beta thalassaemia major is more common than alpha thalassaemia major. The red blood cells of a person with thalassaemia major survive for a few weeks, compared to normal red blood cells that survive for around four months. Severe anemia, poor appetite, enlargement of spleen and liver, paleness and retarded growth may appear in children. The common characteristics of these disorders includes intermittent vaso-occlusive events results in tissue ischemia leading to acute and chronic pain as well as organic damage that can affect any organ in the body. Symptoms also includes, fatigue, paleness, rapid heart rate, jaundice and difficulty in breathing. In sickle cell, blood vessels may become blocked the abnormal cells which lead to painful and prolonged election, poor eye sight, blindness, confusion, lower legs ulcers, disfuction of spleen due to engorged of spleen by the blood cells in children and is also particularly subject to infarction and the majority of individuals with sickle cell disease era functionally asplenic in early childhood thus increasing their risk for certain types of bacterial infections, cholecystitis, osteomyelitis, pneumonia, retarded growth and sexual maturation and urinary tract infections. People with highest rate of hemolysis, are predisposed to pulmonary artery hypertension It has been shown that chronic hemolysis lead to nitric oxide deletion due to nitric oxide scavenging, arginine catabolism and endogenous nitric oxide synthesis inhibition, as well as to Hemoglobinopathy 2 enhance platelets activation and increased endothelin- 1 release. All of these events lead to a vasculopathy characterized by endothelial disfuction, increased vascular tone, inflammation and hypercoagulability and finally to vascular remodeling and destruction of pulmonary vasculature, which ultimately results in hemolytic anemia associated pulmonary hypertension. Treatment by bone marrow transplant is considered the only effective therapy to cure but risks are to be considered, finding of a compatible donor are thirty percent and most donors are siblings. This operation is more successful in young children who do not suffer from iron overload, but graft rejection or even death can occur. Treatment includes also use of drugs such folic acid supplement for making new red blood cells, hydroxyurea to reduces the frequency and severity of vaso- occlusive processes, reduce transfusion needs and increase life span. Anti inflammatory agents and pain killers such as, anti inflammatory drugs and narcotics, severe priapism may require irrigation and aspiration, pulmonary hypertension can include routine treatment and specific therapies such as phosphodiesterase inhibitors or nitric oxide. Dialysis and kidney transplant may be required, incases of kidney failure, splenectomy of spleen sequestration crisis, cholecystectomy for people suffering from cholelithiasis (gall bladder infection) , use of antibiotics for bacterial infections such as pneumonia (lung infections), counseling of psychological complications, eye surgery in eye problem, wound care of leg ulcers, immunizations and regular blood transfusion though chronic red blood cell transfusion is indicated in children with a history of a risk factor for stroke, and other specific complications such as pulmonary hypertension and chronic renal failure. Red blood cell and reticulocytes counts should be done at least once in a year, also assessment of iron status, liver and renal function test and urinalysis in sickle cell disease patients. In thalassaemia, Tran cranial Doppler studies of arterial blood flow velocity is necessary to be included, from seven years of age chest x-ray, pulmonary function tests, abdominal ultrasound examination, eye examination and vision screening is necessary. Parents to the children with these disorders or relatives to the infected should be provided with aggressive education on the management of fever by use of ant pyretic, prophylactic antibiotics which includes penicillins or erythromycin in children, up to date immunization and iron chelation therapy for those with iron overload. Genetic counseling should be provided to the individuals and families about the information on the nature and implications of genetic disorders to help them make informed medical and personal decisions. Couples from communities with higher than average risk of being thalassaemia carriers, should be tested for thalassaemia, especially before starting a family. These couples who both partners have beta thalassaemia minor may select not to children instead they adopt, foster or consider using donor sperms or ova. They may also choose prenatal diagnosis with the option of terminating the pregnancy if fetus is diagnosed with thalassaemia major, if the couples choose to take risk of having the children with thalassaemia major they should follow all the medical requirements. Pre- implantation genetic diagnosis may also be used. It involves use of artificial reproductive technology to create an embryo that can be tested for thalassaemia before transferred to the uterus of the mother. Hemoglobinopathy 3 Reference Richard George Huntsman. Sickle cell anemia and thalassaemia: a primer for health care professionals. Canadian Sickle Cell Society, 1987. s Read More