Sickle Cell Anaemia

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Sickle cell Anaemia can be described as a heredity disease that affects the red blood cells in humans. It’s a complication due to deformation of the shape of red blood cells (crescent shape) commonly known as sickle shape nature of the red blood cells, making it hard for the red blood cells to transport oxygen throughout the human body (Rees, et al. 2019). Therefore, we can say that people having sickle cell Anaemia possess abnormal haemoglobin, a disorder in carrying the blood to the body which makes individual suffering from severe pain and exhaustion.

Genotypical and Phenotypical Health Impact

The disease makes the person have less energy because the number of red blood cells seems to be relatively lower compared to that of a healthy individual. It can also go to the extent of impaired vision among other damages in the body. It’s a mutation of the haemoglobin HBB variant gene that causes a deflection in the haemoglobin molecule.  It is a disease that doesn’t choose since it affects any of the race across the world, among the most affected groups, are the African Americans (Rees, et al. 2020). Phenotypically, the general signs of sickle cell Anaemia are exhibited by intense swelling of the limbs; the feet and the hands. Genotypically, the disease can lead to stunted growth and other complicated infections. However, children below the age of 10 years do not bear severe pain compared to the adults and adolescents.

Causative Factors of Sickle Anaemia

Sickle cell anaemia is also known as the haemoglobin B disorder is caused by an abnormality in the red blood cells in the human body. The disease was first discovered in the common malaria areas where the majority of the patients died from malaria disease. The disease later spread as a result of the migration of populations to different parts of the western world. Historically it is traced to have spread as a result of slave trade among other economic reasons such as barter trade among trading countries or empires in the last century. Prevailing conditions of children born with sickle cell anaemia come from high economy countries such as Europe and North America (Ware, et al. 315). Unlike poor economies in the world such as 3rd world countries like Africa and some parts of Asia sickle cell anaemia have not been recorded hence there is no data on the occurrence of the disease.

A recent global approximation of the number of children born with the disease per annum is over 312,000 children, with a relative estimation of 300 births in the United Kingdom, the USA is up to 3,000 births (Ware, et al. 317). Showing that the most affected community in the world is African-Americans with the highest number of infants born with the disease. In the sub Saharan African with poor amenities and inadequate hospitals in the region, the number of sickle celled anaemia children who die because of its unknown Nature of the disease makes it so hard to estimate the statics of the children born with the syndrome such as well as those who live and struggle with the deadly disease. However, this is just an assumption that most African countries could be suffering more from the illness by projecting the notion that Africa has the highest number of malaria deaths caused by the bacteria, among other diseases (Ware, et al. 318). However, this provides a limited knowledge on the intensity or prevalence of sickle cell anaemia patients in developing countries. The researched paper is, therefore, a review from the high economy countries, that is from Europe and America where there are adequate, sustainable improvements to curb the disease. 

Limitations of Sickle Cell Anaemia

Sickle cell anaemia inhibits one from performing strenuous works that require a lot of energy. An early discovery of the disease is characterized by observed symptoms such as the yellowish skin color a condition known as jaundice, the icterus condition of the eye, whereby the eyes of a child becomes white due to excessive accumulation of red blood cells undergoing a process of haemolysis, also fatigue and persistent swelling of hands and legs. Sickle cell anaemia can also be based on the pathophysiological aspect of pain; the condition brings about severe pain in the abdomen, joints, lower back, chest, legs and the arms (Thapar, Neelam, Penny & Priscilla 159).

More research has been made to adequately understand the nociceptive reaction that adversely affects the tissues causing inflammation and pain to the patient that goes to the extent of affecting the sensory nerves; this creates a neuropathic pain whereby there is heightened sensitivity to touch. Therefore, it clearly describes the increased pain among adult patients and acute pain among the children. The mentioned symptoms do not always affect all individuals at once; some patients do not show all of the symptoms.

Physiological and Psycho-emotional Impact of Sickle Cell Anaemia

The geographical factor shows that most sickle cell anaemia patients come from high altitude areas, drastic temperature changes are some of the factors. Other factors include excessive dehydration, illness and those individuals who undergo psycho-emotional problems such as stress.

Life Expectancy of Individuals Living with Sickle Cell Anaemia

The expected average life of people living with sickle cell anaemia depends on the symptomatic mechanism/treatment the patient is undergoing. Therefore, results for patients with sickle cell anaemia categorized as homozygous sickle haemoglobin either children or adults, the average life expectancy was above 40-50 years for both males and females, while that for sickle cell haemoglobin C was between 60-70 years for both men and women; female patients tend to live longer than male patients (Ware, et al. 320).

Heritability and Probability of Sickle Cell Anaemia

Sickle cell anaemia is a heredity disease that is passed from one generation to another in a format known as autosomal recessive inheritance, an individual act as a carrier of the disease. For instance, a couple just realized that their newborn baby was born with sickle cell anaemia only to realize that the husband was the carrier of the disease. If one of the parents (husband) pass on the gene to the newborn baby, the baby will also be a carrier of sickle cell trait and will eventually give the trait to the F2 generation or affect the infant with the sickle cell anaemia (Thapar, et al. 163).  

The genetic make will comprise of one normal haemoglobin gene and one defective gene that makes a person a potential carrier of the disease. Therefore, their blood component will have sickle cell gene, but they do not show the prevalent symptoms of the disease.  Such occurrence best describes how the condition can be spread from one person to another affecting the future generation to come. Therefore, couples and parent are highly advised to undergo screening and treatment to know their health status to avoid the spread of the disease.

Treatment and Curability of Sickle Cell Anaemia

There have been improvements towards treating patients suffering from sickle cell anaemia, aimed at prolonging the life of the patients as well as prevent the increasing nature of the spread of the disease. One of the significant improvements has been universal newborn screening programs by implementing and monitoring simple treatments through vaccination and antibiotic prophylaxis as well as advising the patients to make regular follow up to the prescribed specialists (Fasano, et al. 291). Some of the primary preventions include improved hydration by taking more liquids such as water, avoiding extreme temperature changes and variations whether hot or cold weather, avoiding plane travel that is unpressurized and taking the prescribed medicines by the doctor.  

Other methods done towards curbing the spread of the disease is through parental education and awareness to the general public that leads to reduced infant mortality from sickle cell anaemia from high- and middle-income nations worldwide (Thapar, et al. 165). Blood transfusion has also been a great move towards reducing the rate of infant mortality. The approach was initiated through many controlled and sufficient trials that proved to be successful in the future known as transfusion therapy (Fasano, et al. 293). The aim was to prevent primary stroke by improving the supply of oxygen to the patient as well as preventing blood clotting problems such as thrombosis among patients. Also, bone marrow transplant has proved to be successful in treating patients living with the disease; the procedure is mainly done to improve health standards of people living with sickle cell anaemia with the aim of preventing the chronic pain aspect of the illness.

Conclusion

The disorder in the red blood cell system has a considerable impact to nations especially the developing countries who are at risk of getting affected by the disease without their knowledge due to lack of equipment; this high risk would result to more infection since the illness is heredity in nature. Therefore, we can also be deduced that the majority of patients survive the 50-decade living with the disease with the ones showing severe symptoms did not survive the 50-decade line. Luckily there has been significantly improved ways to help curb the disease; from public awareness and education, medication such as blood and bone marrow transfusion as well as having qualified personnel to help reduce the prevalence of the disease.

Work Cited

Fasano, Ross M., et al. "Red blood cell alloimmunization is influenced by recipient inflammatory state at time of transfusion in patients with sickle cell disease." British journal of haematology 168.2 (2015): 291-300.

Rees, David C., Thomas N. Williams, and Mark T. Gladwin. "Sickle-cell disease." The Lancet 376.9757 (2010): 2018-2031.

Thapar, Neelam, Penny Scott, and Priscilla Alderson. "Living with a congenital condition: the views of adults who have cystic fibrosis, sickle cell anaemia, Down’s syndrome, spina bifida or thalassaemia." Before Birth. Routledge, 2017. 156-171.

Ware, Russell E., et al. "Sickle cell disease." The Lancet390.10091 (2017): 311-323.

August 09, 2023
Category:

Health

Subcategory:

Illness

Number of pages

6

Number of words

1627

Downloads:

45

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